Newsletter

Name Nucleotide Change Exon Consequence Institute Contributors

V392G T to G at 1307 8 Val to Gly at 392 The Hospital for Sick Children, and Wellesley Hospital
Toronto, Canada

Royal Manchester Children's Hospital, England Zielenski J,
Tzountzouris J,
Tsui L-C,
Tullis E

Larder R,
Malone G,
Haworth A,
Schwarz M
(Jul 27, 1997)

Note:
(V392G) This mutation was detected by heteroduplex analysis in one chromosome of 21 year-old East Indian CF patient, whose other CF mutation was unknown. The patient was presented with high sweat chloride (125), pancreatic sufficiency and moderate lung disease (27 July 1997).

This mutation was also reported by Larder et al (5 August 1997) who found the mutation by DGGE analysis and identified by direct DNA sequencing. The mutation was seen in homozygous form in a Pakistani CF patient on one occa sion, in over 200 non-[delta]F508 chromosome screened. The patient was referred by the Yorkshire Regional DNA Laboratory at Leeds (UK). The DGGE primers were supplied by Pr. Michel Goossens on behalf of the European Community Concerted Action for the Co -ordination of Cystic Fibrosis Research and Therapy.

Contact: Julian Zielenski

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
V392G	T to G at 1307	8	Val to Gly at 392	The Hospital for Sick Children, and Wellesley Hospital Toronto, Canada Royal Manchester Children's Hospital, England	Zielenski J, Tzountzouris J, Tsui L-C, Tullis E Larder R, Malone G, Haworth A, Schwarz M (Jul 27, 1997)
Note: (V392G) This mutation was detected by heteroduplex analysis in one chromosome of 21 year-old East Indian CF patient, whose other CF mutation was unknown. The patient was presented with high sweat chloride (125), pancreatic sufficiency and moderate lung disease (27 July 1997). This mutation was also reported by Larder et al (5 August 1997) who found the mutation by DGGE analysis and identified by direct DNA sequencing. The mutation was seen in homozygous form in a Pakistani CF patient on one occa sion, in over 200 non-[delta]F508 chromosome screened. The patient was referred by the Yorkshire Regional DNA Laboratory at Leeds (UK). The DGGE primers were supplied by Pr. Michel Goossens on behalf of the European Community Concerted Action for the Co -ordination of Cystic Fibrosis Research and Therapy. Contact: Julian Zielenski

Name Nucleotide Change Exon Consequence Institute Contributors

R1422W C to T at 4396 24 Arg to Trp at 1422 Institut de Biologie
Montpellier Claustres M,
Guittard C,
Desgeorges M
(Aug 04, 1997)

-94G->T G to T at -94 5' flanking promoter mutation? As Above Claustres M,
Guittard C,
Desgeorges M,
Ramsay M
(Aug 04, 1997)

Note:
(R1422W) This possible mutation was found by DGGE and identified by DNA sequencing in a CF patient from Southern France. The patient carries [delta]F508 and D993Y. No parental DNA was available at the time to determine with which allele R1422W was asso ciated. The mutation destroys a Fnu4HI restriction site.
(-94G->T) This presumed promoter mutation was found by DGGE and identified by DNA sequencing in a CF patient from South Africa. No other mutation was detected for this patient. It destroys an AvaII restriction site.

Contact: Mireille Claustres

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
R1422W	C to T at 4396	24	Arg to Trp at 1422	Institut de Biologie Montpellier	Claustres M, Guittard C, Desgeorges M (Aug 04, 1997)
-94G->T	G to T at -94	5' flanking	promoter mutation?	As Above	Claustres M, Guittard C, Desgeorges M, Ramsay M (Aug 04, 1997)
Note: (R1422W) This possible mutation was found by DGGE and identified by DNA sequencing in a CF patient from Southern France. The patient carries [delta]F508 and D993Y. No parental DNA was available at the time to determine with which allele R1422W was asso ciated. The mutation destroys a Fnu4HI restriction site. (-94G->T) This presumed promoter mutation was found by DGGE and identified by DNA sequencing in a CF patient from South Africa. No other mutation was detected for this patient. It destroys an AvaII restriction site. Contact: Mireille Claustres

Name Nucleotide Change Exon Consequence Institute Contributors

2377C/T C or T at 2377 13 polymorphism (no change at Leu749) Ist. Biologia e Genetica, Universita' di Verona Bombieri C,
Benetazzo MG,
Saccomani A,
Pignatti PF.
(Aug 06, 1997)

Note:
(2377C/T) The polymorphism was found by DGGE analysis followed by sequencing, and confirmed with a Restriction Site Generating PCR assay. It was found once out of 102 chromosomes of COPD patients. It was also absent in 46 chromosomes of patients affected by Diffuse Bronchiectasis and in 120 control chromosomes.

Contact: Cristina Bombieri

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
2377C/T	C or T at 2377	13	polymorphism (no change at Leu749)	Ist. Biologia e Genetica, Universita' di Verona	Bombieri C, Benetazzo MG, Saccomani A, Pignatti PF. (Aug 06, 1997)
Note: (2377C/T) The polymorphism was found by DGGE analysis followed by sequencing, and confirmed with a Restriction Site Generating PCR assay. It was found once out of 102 chromosomes of COPD patients. It was also absent in 46 chromosomes of patients affected by Diffuse Bronchiectasis and in 120 control chromosomes. Contact: Cristina Bombieri

Name Nucleotide Change Exon Consequence Institute Contributors

Y517C A to G at 1682 10 Tyr to Cys at 517 Servizio di Genetica Medica,
Torino, Italy Arduino C,
Brusco A,
Ferrone M,
Piana M R,
Carbonara A
(Aug 06, 1997)

Note:
(Y517C) The mutation was detected by SSCP analysis and identified by direct DNA sequencing and confirmed by restriction site generated PCR: a modified primer creates a RsaI site, destroyed by the mutation.

Contact: Alfredo Brusco

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
Y517C	A to G at 1682	10	Tyr to Cys at 517	Servizio di Genetica Medica, Torino, Italy	Arduino C, Brusco A, Ferrone M, Piana M R, Carbonara A (Aug 06, 1997)
Note: (Y517C) The mutation was detected by SSCP analysis and identified by direct DNA sequencing and confirmed by restriction site generated PCR: a modified primer creates a RsaI site, destroyed by the mutation. Contact: Alfredo Brusco

Name Nucleotide Change Exon Consequence Institute Contributors

L967S T to C at 3032 15 Leu to Ser at 967 (oligospermia?) The Hospital for Sick Children
Toronto, Canada Zielenski J,
Tzountzouris J,
Tsui L-C
(Aug 12, 1997)

Note:
(L967S) This mutation which was previously reported as a polymorphism (Claustres et al. 1993) is now found in a man with oligospermia.

Contact: Julian Zielenski

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
L967S	T to C at 3032	15	Leu to Ser at 967 (oligospermia?)	The Hospital for Sick Children Toronto, Canada	Zielenski J, Tzountzouris J, Tsui L-C (Aug 12, 1997)
Note: (L967S) This mutation which was previously reported as a polymorphism (Claustres et al. 1993) is now found in a man with oligospermia. Contact: Julian Zielenski

Name Nucleotide Change Exon Consequence Institute Contributors

K68E A to G at 334 3 Lys to Glu at 68 Bogazici University
Istanbul, Turkey Kilinc O,
Ankan Z,
Altmos S,
Tolun A

(Aug 12, 1997)

3849+5G->A G to A at 3849+5 intron 19 mRNA splicing mutation? As Above Kilinc O,
Demirkol M,
Baykal T,
Tolun A
(Aug 12, 1997)

Note:
(K68E) This mutation was found in a male Turkish patient (first reported Aug 4, 1997). His sweat chloride was 60 meq/l and showed lung disease at age of 26 months. His other CF mutation was later reported to be 406+3T->C (on March 23, 1998).
(3849+5G->A) The mutation was detected by DGGE and DNA sequencing. The patient was homozygous for the mutation. His sweat chloride was 100 meq/l. He showed gastrointestinal symptoms and lung disease at age of 40 days.

Contact: Asli Tolun

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
K68E	A to G at 334	3	Lys to Glu at 68	Bogazici University Istanbul, Turkey	Kilinc O, Ankan Z, Altmos S, Tolun A (Aug 12, 1997)
3849+5G->A	G to A at 3849+5	intron 19	mRNA splicing mutation?	As Above	Kilinc O, Demirkol M, Baykal T, Tolun A (Aug 12, 1997)
Note: (K68E) This mutation was found in a male Turkish patient (first reported Aug 4, 1997). His sweat chloride was 60 meq/l and showed lung disease at age of 26 months. His other CF mutation was later reported to be 406+3T->C (on March 23, 1998). (3849+5G->A) The mutation was detected by DGGE and DNA sequencing. The patient was homozygous for the mutation. His sweat chloride was 100 meq/l. He showed gastrointestinal symptoms and lung disease at age of 40 days. Contact: Asli Tolun

Name Nucleotide Change Exon Consequence Institute Contributors

L1335P T to C at 4136 22 Leu to Pro at 1335 The Hospital for Sick Children,
Toronto, Canada Zielenski J,
Tzountzouris J,
Tsui L-C
(Aug 12, 1997)

3876delA deletion of A at 3876 20 frameshift As Above As Above

Note:
(L1335P) The mutation was detected by heteroduplex analysis and direct sequencing in two CF patients carrying [delta]F508 on their other CF chromosome.
(3876delA) This mutation was detected by heteroduplex analysis and direct DNA sequencing in one CF patient carrying [delta]F508 as the other allele.

Contact: Julian Zielenski

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
L1335P	T to C at 4136	22	Leu to Pro at 1335	The Hospital for Sick Children, Toronto, Canada	Zielenski J, Tzountzouris J, Tsui L-C (Aug 12, 1997)
3876delA	deletion of A at 3876	20	frameshift	As Above	As Above
Note: (L1335P) The mutation was detected by heteroduplex analysis and direct sequencing in two CF patients carrying [delta]F508 on their other CF chromosome. (3876delA) This mutation was detected by heteroduplex analysis and direct DNA sequencing in one CF patient carrying [delta]F508 as the other allele. Contact: Julian Zielenski

Name Nucleotide Change Exon Consequence Institute Contributors

F1337V T to G at 4138 22 Phe to Val at 1337 (CBAVD) State University of Groningen,
The Nethelands Scheffer H,
Wu Y,
Hofstra R,
Looman M,
de Jong D,
Buys C
(Aug 22, 1997)

R248T G to C at 875 6a Arg to Thr at 248 (CBAVD) As Above As Above

3076C/T C or T at 3076 16 polymorphism (Ala at 981 no change) As Above As Above

Note:
(F1337V) The mutation was detected by DGGE and identified by direct sequencing in a CBAVD patient with R1070Q on the other allele. The mutation creates a MaeII site. It was not detected in 50 unrelated individuals with no CF history.
(R248T) The mutation was detected by DGGE and identified by direct sequencing of a CBAVD patient with [delta]F508 on the other chromosome. The mutation was not observed in 100 other CFTR alleles from 50 unrelated individuals without CF history. The mut ation may affect mRNA splicing.
(3076C/T) The 3076T allele was found in a CF patient compound heterozygous for R347P and [delta]F508. The allele was not in 50 unrelated individuals with no CF history.

Contact: Hans Scheffer

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
F1337V	T to G at 4138	22	Phe to Val at 1337 (CBAVD)	State University of Groningen, The Nethelands	Scheffer H, Wu Y, Hofstra R, Looman M, de Jong D, Buys C (Aug 22, 1997)
R248T	G to C at 875	6a	Arg to Thr at 248 (CBAVD)	As Above	As Above
3076C/T	C or T at 3076	16	polymorphism (Ala at 981 no change)	As Above	As Above
Note: (F1337V) The mutation was detected by DGGE and identified by direct sequencing in a CBAVD patient with R1070Q on the other allele. The mutation creates a MaeII site. It was not detected in 50 unrelated individuals with no CF history. (R248T) The mutation was detected by DGGE and identified by direct sequencing of a CBAVD patient with [delta]F508 on the other chromosome. The mutation was not observed in 100 other CFTR alleles from 50 unrelated individuals without CF history. The mut ation may affect mRNA splicing. (3076C/T) The 3076T allele was found in a CF patient compound heterozygous for R347P and [delta]F508. The allele was not in 50 unrelated individuals with no CF history. Contact: Hans Scheffer

Name Nucleotide Change Exon Consequence Institute Contributors

E527Q G to C at 1711 10 Glu to Gln at 527 Royal Manchester Children's Hospital, England Byrne K,
Malone G,
Haworth A,
Schwarz M
(Aug 22, 1997)

Note:
(E527Q) The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in heterozygous form in a patient thought to be mildly affected with CF, with age of onset at 20 years, chronic bronchietasis, malabsorption and x-ray findings suggestive of CF. Her other mutation is [delta]F508. We have seen it only once in this patient referred by the Leicester Genetic Center at Leicester among over 200 non-[delta]F508 chromosomes screened.

Contact: Martin Schwarz

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
E527Q	G to C at 1711	10	Glu to Gln at 527	Royal Manchester Children's Hospital, England	Byrne K, Malone G, Haworth A, Schwarz M (Aug 22, 1997)
Note: (E527Q) The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in heterozygous form in a patient thought to be mildly affected with CF, with age of onset at 20 years, chronic bronchietasis, malabsorption and x-ray findings suggestive of CF. Her other mutation is [delta]F508. We have seen it only once in this patient referred by the Leicester Genetic Center at Leicester among over 200 non-[delta]F508 chromosomes screened. Contact: Martin Schwarz

Name Nucleotide Change Exon Consequence Institute Contributors

L1227S T to C at 3812 19 Leu to Ser at 1227 Laboratoire de Génétique Moléculaire and
Faculté de Medicine
RENNES Cedex
France Dubourg C,
David V
(Aug 25, 1997)

Note:
(L1227S) This missense mutation in CFTR exon 19 was detected by DGGE and identified by direct sequencing. This nucleotide change T->C at position 3812 (L1227S) in exon 19 was associated with a CUAVD phenotype.

Contact: Veronique David

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
L1227S	T to C at 3812	19	Leu to Ser at 1227	Laboratoire de Génétique Moléculaire and Faculté de Medicine RENNES Cedex France	Dubourg C, David V (Aug 25, 1997)
Note: (L1227S) This missense mutation in CFTR exon 19 was detected by DGGE and identified by direct sequencing. This nucleotide change T->C at position 3812 (L1227S) in exon 19 was associated with a CUAVD phenotype. Contact: Veronique David

Name Nucleotide Change Exon Consequence Institute Contributors

D513G A to G at 1670 10 Asp to Gly at 513 (CBAVD) Groupe Hospitalier Cochin,
Paris, France Bienvenu T,
Bousquet S,
Vidaud D,
Beldjord C
(Aug 29, 1997)

Note:
(D513G) This mutation was detected by DGGE and identified by direct sequencing. It is not found in 200 other non-[delta]F508 CF chromosomes and 200 non-CF chromosomes tested. The mutation creates an HphI site. It was fond in a CBAVD patient. He carri es a [delta]F508 on the other chromosome.

Contact: Thierry Bienvenu

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
D513G	A to G at 1670	10	Asp to Gly at 513 (CBAVD)	Groupe Hospitalier Cochin, Paris, France	Bienvenu T, Bousquet S, Vidaud D, Beldjord C (Aug 29, 1997)
Note: (D513G) This mutation was detected by DGGE and identified by direct sequencing. It is not found in 200 other non-[delta]F508 CF chromosomes and 200 non-CF chromosomes tested. The mutation creates an HphI site. It was fond in a CBAVD patient. He carri es a [delta]F508 on the other chromosome. Contact: Thierry Bienvenu

Name Nucleotide Change Exon Consequence Institute Contributors

E656X T to G at 2098 13 Glu to Stop at 656 Institut de Biologie Montpellier.

(*)Institut de Pathologie et de Génétique Claustres M,
Guittard C,
Hilbert P(*)
(Oct 16, 1997)

Note:
(E656X) This nonsense mutation was found by DGGE and identified by DNA sequencing in a CF patient from Belgium which carries [delta]F508 on the other chromosome.

This boy, born in 1996, presents a severe phenotype of CF with a positive sweat chlor ide test (92mmol/l) and a lung colonization with Staphylococcus aureus.

This mutation does not modify any restriction site.

Contact: Mireille Claustres

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
E656X	T to G at 2098	13	Glu to Stop at 656	Institut de Biologie Montpellier. (*)Institut de Pathologie et de Génétique	Claustres M, Guittard C, Hilbert P(*) (Oct 16, 1997)
Note: (E656X) This nonsense mutation was found by DGGE and identified by DNA sequencing in a CF patient from Belgium which carries [delta]F508 on the other chromosome. This boy, born in 1996, presents a severe phenotype of CF with a positive sweat chlor ide test (92mmol/l) and a lung colonization with Staphylococcus aureus. This mutation does not modify any restriction site. Contact: Mireille Claustres

Name Nucleotide Change Exon Consequence Institute Contributors

4428insGA insertion of GA after 4428 24 frameshift Laboratoire de Génétique Moléculaire
CHU Pontchaillou
Rennes, France Dubourg C,
Jezequel P,
David V
(Oct 17, 1997)

Note:
(4428insGA) The mutation was detected by DGGE and direct sequencing in a CAVD patient carrying [delta]F508.

Contact: Veronique David

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
4428insGA	insertion of GA after 4428	24	frameshift	Laboratoire de Génétique Moléculaire CHU Pontchaillou Rennes, France	Dubourg C, Jezequel P, David V (Oct 17, 1997)
Note: (4428insGA) The mutation was detected by DGGE and direct sequencing in a CAVD patient carrying [delta]F508. Contact: Veronique David

Name Nucleotide Change Exon Consequence Institute Contributors

3850-79T/C T or C at 3850-79 intron 19 polymorphism? Biochimie, Bat D,
Hopital Debrousse, Lyon, France Chevalier-Porst F,
Bozon D
(Oct 28, 1997)

L137R T to G at 542 4 Leu to Arg at 137 As Above As Above

G314V G to T at 1073 7 Gly to Val at 324 As Above As Above

Note:
(3850-79T/C) No additional information is available.
(L137R) This French CF patient has [delta]F508 on the other CF chromosome. This substitution creates a Cfo I site.
(G314V) This mutation was found in a CF patient homozygous for this mutation. He was diagnosed as CF at 32 years.

Contact: Dominique Bozon

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
3850-79T/C	T or C at 3850-79	intron 19	polymorphism?	Biochimie, Bat D, Hopital Debrousse, Lyon, France	Chevalier-Porst F, Bozon D (Oct 28, 1997)
L137R	T to G at 542	4	Leu to Arg at 137	As Above	As Above
G314V	G to T at 1073	7	Gly to Val at 324	As Above	As Above
Note: (3850-79T/C) No additional information is available. (L137R) This French CF patient has [delta]F508 on the other CF chromosome. This substitution creates a Cfo I site. (G314V) This mutation was found in a CF patient homozygous for this mutation. He was diagnosed as CF at 32 years. Contact: Dominique Bozon

Name Nucleotide Change Exon Consequence Institute Contributors

A155P G to C at 595 4 Ala to Pro at 155 The Hospital for Sick Children,
Toronto, Canada

Institute for Mother and Child,
Warsaw, Poland Zielenski J,
Aznarez I,
Tsui L-C,
Bal J,
Mazurczak T
(Nov 12, 1997)

E217G A to G at 782 6a Glu to Gly at 217 As Above As Above

3600+2insT insertion of T after 3600+2 intron 18 mRNA splice mutation? As Above As Above

Note:
(A155P) The mutation was detected by heteroduplex analysis of a 6 month-old Polish CF patient. She had high sweat chloride (130 meq/l), pancreatic insufficiency, mild lung disease, and hypochloremia diarrhea. Her presumed genotype is 3171insA/A155P.
(E217G) The mutation was detected by heteroduplex analysis in a 2-year old male Polish patient with high sweat cloride (60-80 meq/l), pancreatic sufficiency, and moderate lung disease. His other CF mutation is unknown.
(3600+2insT) The mutation was detected by heteroduplex analysis in a 1-year old female Polish patient with high sweat chloride (120 meq/l), pancreatic insufficiency, and mild lung disease. Her other CF mutation was unknown.

Contact: Julian Zielenski

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
A155P	G to C at 595	4	Ala to Pro at 155	The Hospital for Sick Children, Toronto, Canada Institute for Mother and Child, Warsaw, Poland	Zielenski J, Aznarez I, Tsui L-C, Bal J, Mazurczak T (Nov 12, 1997)
E217G	A to G at 782	6a	Glu to Gly at 217	As Above	As Above
3600+2insT	insertion of T after 3600+2	intron 18	mRNA splice mutation?	As Above	As Above
Note: (A155P) The mutation was detected by heteroduplex analysis of a 6 month-old Polish CF patient. She had high sweat chloride (130 meq/l), pancreatic insufficiency, mild lung disease, and hypochloremia diarrhea. Her presumed genotype is 3171insA/A155P. (E217G) The mutation was detected by heteroduplex analysis in a 2-year old male Polish patient with high sweat cloride (60-80 meq/l), pancreatic sufficiency, and moderate lung disease. His other CF mutation is unknown. (3600+2insT) The mutation was detected by heteroduplex analysis in a 1-year old female Polish patient with high sweat chloride (120 meq/l), pancreatic insufficiency, and mild lung disease. Her other CF mutation was unknown. Contact: Julian Zielenski

Name Nucleotide Change Exon Consequence Institute Contributors

Q452P A to C at 1487 9 Gln to Pro at 452 Institut de Biologie,
Montpellier, France Claustres M,
Guittard C,
Des George M,
Carles S
(Dec 01, 1997)

2856C/T C or T at 2856 15 polymorphism (Thr at 908 no change) As Above As Above

405+42A/G A or G at 405+42 intron 3 polymorphism Tartu University
Tartu, Estonia
Institut de Biologie
Montpellier, France Teder M,
Kaasik K,
Guittard C,
Claustres M
(Dec 09, 1997)

Note:
(Q452P) This putative mutation was found by DGGE and identified by DNA sequencing in a CF patient from Southern France heterozygous for [delta]F508. No parental DNA was available at the time to determine phase of the two mutations. The new sequence cre ates a AvaII site.
(2856C/T) The T variant was found by DGGE and identified by DNA sequencing in a French patient suspected of CF. The new sequence destroys a HphI site.
(405+42A/G) The G variant was found by DGGE and identified by DNA sequencing in an individual from Estonia heterozygous for S1235R. The new sequence does not modify any known restriction site.

M. Teder and K Kaasik
Institut of Cell and Molecul ar Biology
Tartu University, Laboratory of Biotechnology
RIA 23, Tartu, Estonia
Fax: 372 7 420 248
Tel: 372 7 420 210

Contact: Mireille Claustres

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
Q452P	A to C at 1487	9	Gln to Pro at 452	Institut de Biologie, Montpellier, France	Claustres M, Guittard C, Des George M, Carles S (Dec 01, 1997)
2856C/T	C or T at 2856	15	polymorphism (Thr at 908 no change)	As Above	As Above
405+42A/G	A or G at 405+42	intron 3	polymorphism	Tartu University Tartu, Estonia Institut de Biologie Montpellier, France	Teder M, Kaasik K, Guittard C, Claustres M (Dec 09, 1997)
Note: (Q452P) This putative mutation was found by DGGE and identified by DNA sequencing in a CF patient from Southern France heterozygous for [delta]F508. No parental DNA was available at the time to determine phase of the two mutations. The new sequence cre ates a AvaII site. (2856C/T) The T variant was found by DGGE and identified by DNA sequencing in a French patient suspected of CF. The new sequence destroys a HphI site. (405+42A/G) The G variant was found by DGGE and identified by DNA sequencing in an individual from Estonia heterozygous for S1235R. The new sequence does not modify any known restriction site. M. Teder and K Kaasik Institut of Cell and Molecul ar Biology Tartu University, Laboratory of Biotechnology RIA 23, Tartu, Estonia Fax: 372 7 420 248 Tel: 372 7 420 210 Contact: Mireille Claustres

Name Nucleotide Change Exon Consequence Institute Contributors

3944delGT deletion of GT from 3944 20 frameshift Charles University,
Prague, Czech Republic

University of Leuven,
Gasthuisberg, Leuvan, Belgium Macek M, Jr,
Krebsova A,
Macek M,
Reynaert I,
Cassiman J-J,
Cuppens H
(Dec 12, 1997)

Note:
(3944delGT) This mutation was detected in a deceased Czech male CF patient. No clinical information was available

Contact: Milan Macek

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
3944delGT	deletion of GT from 3944	20	frameshift	Charles University, Prague, Czech Republic University of Leuven, Gasthuisberg, Leuvan, Belgium	Macek M, Jr, Krebsova A, Macek M, Reynaert I, Cassiman J-J, Cuppens H (Dec 12, 1997)
Note: (3944delGT) This mutation was detected in a deceased Czech male CF patient. No clinical information was available Contact: Milan Macek

Name Nucleotide Change Exon Consequence Institute Contributors

3577delT deletion of T at 3577 18 frameshift Groupe Hospitalier Cochin,
Paris, France Bienvenu T,
Bousquet S,
Stephann J,
Vidaud D,
Beldjord C
(Dec 29, 1997)

Note:
(3577delT) This mutation was detected by DGGE and identified by direct sequencing in a CBAVD patient. It was not found in 200 other non-[delta]F508 CF chromosomes and 200 non CF chromosomes tested. The other mutation was unknown.

Contact: Thierry Bienvenu

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
3577delT	deletion of T at 3577	18	frameshift	Groupe Hospitalier Cochin, Paris, France	Bienvenu T, Bousquet S, Stephann J, Vidaud D, Beldjord C (Dec 29, 1997)
Note: (3577delT) This mutation was detected by DGGE and identified by direct sequencing in a CBAVD patient. It was not found in 200 other non-[delta]F508 CF chromosomes and 200 non CF chromosomes tested. The other mutation was unknown. Contact: Thierry Bienvenu

Name Nucleotide Change Exon Consequence Institute Contributors

2634insT insertion of T after 2634 14a frameshift Institut de Biologie,
Montpellier, France Claustres M,
Guittard C,
Des George M,
Carles S
(Jan 06, 1998)

F994C T to G at 3113 16 Phe to Cys at 994 As Above As Above

Note:
(2634insT) This mutation was found by DGGE and identified by DNA sequencing in a patient from Southern France. It does not modify any restriction site.
(F994C) This mutation was detected by DGGE and direct sequencing in a CBAVD patient from Southern France. The new sequence creates a SfaNI site.

Contact: Mireille Claustres

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
2634insT	insertion of T after 2634	14a	frameshift	Institut de Biologie, Montpellier, France	Claustres M, Guittard C, Des George M, Carles S (Jan 06, 1998)
F994C	T to G at 3113	16	Phe to Cys at 994	As Above	As Above
Note: (2634insT) This mutation was found by DGGE and identified by DNA sequencing in a patient from Southern France. It does not modify any restriction site. (F994C) This mutation was detected by DGGE and direct sequencing in a CBAVD patient from Southern France. The new sequence creates a SfaNI site. Contact: Mireille Claustres

Name Nucleotide Change Exon Consequence Institute Contributors

E278del deletion of AAG from 965 6b deletion of Glu at 278 IRO
Barcelona,
Spain Casals T,
Gimenez J,
Ramos M D,
Nunes V,
Estivill X
(Jan 08, 1998)

V1008D T to A at 3155 17a Val to Asp at 1008 As Above As Above

Note:
(E278del) This mutation was detected by SSCA and direct sequencing.
E278del (old nomenclature: [delta]E278) was identified in a Spanish CF carrier mother.
(V1008D) This mutation was detected by SSCA and direct sequencing.
The V1008D mutation was identified in two spanish affected sisters with mild lung disease and PS carrying the G542X mutation on the other chromosome.

Contact: Teresa Casals

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
E278del	deletion of AAG from 965	6b	deletion of Glu at 278	IRO Barcelona, Spain	Casals T, Gimenez J, Ramos M D, Nunes V, Estivill X (Jan 08, 1998)
V1008D	T to A at 3155	17a	Val to Asp at 1008	As Above	As Above
Note: (E278del) This mutation was detected by SSCA and direct sequencing. E278del (old nomenclature: [delta]E278) was identified in a Spanish CF carrier mother. (V1008D) This mutation was detected by SSCA and direct sequencing. The V1008D mutation was identified in two spanish affected sisters with mild lung disease and PS carrying the G542X mutation on the other chromosome. Contact: Teresa Casals

Name Nucleotide Change Exon Consequence Institute Contributors

621+3A->G A to G at 621+3 intron 4 mRNA splicing mutation St. Sophia's Children's Hospital,
Athens, Greece Tzetis M,
Antoniadi Th,
Kanavakis E
(Feb 02, 1998)

P140L C to T at 551 4 Pro to Leu at 140 As Above As Above

L1065F C to T at 3325 17b Leu to Phe at 1065 As Above As Above

E823X G to T at 2599 13 Glu to Stop at 823 As Above As Above

E725K G to A at 2305 13 Glu to Lys at 725 As Above As Above

K162E A to G at 616 4 Lys to Glu at 162 As Above As Above

Note:
(621+3A->G) The mutation was detected by DGGE and direct sequencing. 621+3A>G was detected in 4/250CF patients (0.8%), all 4 of Greek origin. Three of the patents had mutation [delta]F508 in trans and one had mutation 1898+1G>T in trans. All fou r patients are PI.

(P140L) This mutation was detected by DGGE and direct sequencing.

P140L was found once (1/ 500 chromosomes) in a male CF patient of Greek origin; he presented with meconium at birth, PS and mild bronchitis.

(L1065F) This mutation was detected by DGGE and direct sequencing.

L1065F was found once (1/ 500chromosomes) in a male CF patient of Greek origin; his other CF mutation is [delta]F508. The patient is PI.

(E823X) This mutation was detected by DGGE and direct sequencing.

E823X was found in a male CF patient whose parent's origin is from Syria. The patient's other mutation is unknown.
(E725K) This mutation was detected by DGGE and direct sequencing.

E725K was found in one female CF patient of Greek origin (1/500chromosomes); her other mutation is unknown.
(K162E) This mutation was detected by DGGE and direct sequencing.

K162E was found in one CF patient of Greek origin, among 250 screened. Her other CF mutation is [delta]F508. The patient is an adult mother of two children, she is PS and had borde rline sweat test (48mEq/L). She was referred to us for CF mutation screening before her second pregnancy because of the presence of CF child in the immediate family. K162E was not detected among more than 100 normal chromosomes screened.

Contact: Maria Tzetis

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
621+3A->G	A to G at 621+3	intron 4	mRNA splicing mutation	St. Sophia's Children's Hospital, Athens, Greece	Tzetis M, Antoniadi Th, Kanavakis E (Feb 02, 1998)
P140L	C to T at 551	4	Pro to Leu at 140	As Above	As Above
L1065F	C to T at 3325	17b	Leu to Phe at 1065	As Above	As Above
E823X	G to T at 2599	13	Glu to Stop at 823	As Above	As Above
E725K	G to A at 2305	13	Glu to Lys at 725	As Above	As Above
K162E	A to G at 616	4	Lys to Glu at 162	As Above	As Above
Note: (621+3A->G) The mutation was detected by DGGE and direct sequencing. 621+3A>G was detected in 4/250CF patients (0.8%), all 4 of Greek origin. Three of the patents had mutation [delta]F508 in trans and one had mutation 1898+1G>T in trans. All fou r patients are PI. (P140L) This mutation was detected by DGGE and direct sequencing. P140L was found once (1/ 500 chromosomes) in a male CF patient of Greek origin; he presented with meconium at birth, PS and mild bronchitis. (L1065F) This mutation was detected by DGGE and direct sequencing. L1065F was found once (1/ 500chromosomes) in a male CF patient of Greek origin; his other CF mutation is [delta]F508. The patient is PI. (E823X) This mutation was detected by DGGE and direct sequencing. E823X was found in a male CF patient whose parent's origin is from Syria. The patient's other mutation is unknown. (E725K) This mutation was detected by DGGE and direct sequencing. E725K was found in one female CF patient of Greek origin (1/500chromosomes); her other mutation is unknown. (K162E) This mutation was detected by DGGE and direct sequencing. K162E was found in one CF patient of Greek origin, among 250 screened. Her other CF mutation is [delta]F508. The patient is an adult mother of two children, she is PS and had borde rline sweat test (48mEq/L). She was referred to us for CF mutation screening before her second pregnancy because of the presence of CF child in the immediate family. K162E was not detected among more than 100 normal chromosomes screened. Contact: Maria Tzetis

Name Nucleotide Change Exon Consequence Institute Contributors

V1147I G to A at 3571 18 Val to Ile at 1147 Bogazici University,
Istanbul, Turkey Kilinc O,
Aydogdu S,
Ozkmay F,
Tolun A
(Feb 17, 1998)

Note:
(V1147I) This mutation was detected by DGGE and DNA sequencing. The patient is heterozygous for the mutation, He showed gastrointestinal symptoms, very frequent respiratory infections and heart problems. The disease symptoms appeared at the age of 7 m onths.

The DGGE primers were supplied by Michel Goossens on behalf of the European Community Concerted Action for Coordination of Cystic Fibrosis Research and Therapy.

Contact: Asli Tolun

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
V1147I	G to A at 3571	18	Val to Ile at 1147	Bogazici University, Istanbul, Turkey	Kilinc O, Aydogdu S, Ozkmay F, Tolun A (Feb 17, 1998)
Note: (V1147I) This mutation was detected by DGGE and DNA sequencing. The patient is heterozygous for the mutation, He showed gastrointestinal symptoms, very frequent respiratory infections and heart problems. The disease symptoms appeared at the age of 7 m onths. The DGGE primers were supplied by Michel Goossens on behalf of the European Community Concerted Action for Coordination of Cystic Fibrosis Research and Therapy. Contact: Asli Tolun

Name Nucleotide Change Exon Consequence Institute Contributors

-790T9/8 9T or 8T at -790 5' flanking polymorphism As Above Onay T,
Kirdar B
(Feb 26, 1998)

S307N G to A at 1052 7 Ser to Asn at 307 As Above As Above

Note:
(-790T9/8) The row of T's were found to be shortened from 9 to 8 in 2 parental chromosomes of two different Turkish CF families. The change was detected by heteroduplex analysis and direct sequencing. The estimated allele frequency for 8T was 2.4%.
(S307N) This mutation was detected by heteroduplex analysis in a 38 year-old CBAVD patient of Turkish origin. It was not present in 134 CF and 60 normal chromosomes. The patient was also found to have the 5T allele in cis with TG12 on the other CF chro mosome. The serine residue is highly conserved in the CFTR of human, bovine, mouse, Xenopus and dogfish. It abolishes a FokI site.

Contact: Tuncer Onay

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
-790T9/8	9T or 8T at -790	5' flanking	polymorphism	As Above	Onay T, Kirdar B (Feb 26, 1998)
S307N	G to A at 1052	7	Ser to Asn at 307	As Above	As Above
Note: (-790T9/8) The row of T's were found to be shortened from 9 to 8 in 2 parental chromosomes of two different Turkish CF families. The change was detected by heteroduplex analysis and direct sequencing. The estimated allele frequency for 8T was 2.4%. (S307N) This mutation was detected by heteroduplex analysis in a 38 year-old CBAVD patient of Turkish origin. It was not present in 134 CF and 60 normal chromosomes. The patient was also found to have the 5T allele in cis with TG12 on the other CF chro mosome. The serine residue is highly conserved in the CFTR of human, bovine, mouse, Xenopus and dogfish. It abolishes a FokI site. Contact: Tuncer Onay

Name Nucleotide Change Exon Consequence Institute Contributors

1742delAC deletion of AC from 1742 11 frameshift Aomori Central Hospital, Aomori, and
JCR Pharmaceuticals Co, Kobe,
Japan Abo W,
Seki K,
Yamamoto Y
(Mar 05, 1998)

1525-18G/A G or A at 1525-18 intron 9 polymorphism or mRNA splicing mutation? As Above As Above

Note:
(1742delAC) This mutation was detected in an 8 year-old Japanese CF patient by direct DNA sequencing. The patient has meconium ileus, pancreatic insufficiency, elevated sweat chloride concentration (153 meq/l) and pulmonary disease. He carries the A al lele of 1525-18G/A polymorphism.
(1525-18G/A) This sequence alteration was found in a Japanese CF patient with 1742delAC.

Contact: Wataru Abo

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
1742delAC	deletion of AC from 1742	11	frameshift	Aomori Central Hospital, Aomori, and JCR Pharmaceuticals Co, Kobe, Japan	Abo W, Seki K, Yamamoto Y (Mar 05, 1998)
1525-18G/A	G or A at 1525-18	intron 9	polymorphism or mRNA splicing mutation?	As Above	As Above
Note: (1742delAC) This mutation was detected in an 8 year-old Japanese CF patient by direct DNA sequencing. The patient has meconium ileus, pancreatic insufficiency, elevated sweat chloride concentration (153 meq/l) and pulmonary disease. He carries the A al lele of 1525-18G/A polymorphism. (1525-18G/A) This sequence alteration was found in a Japanese CF patient with 1742delAC. Contact: Wataru Abo

Name Nucleotide Change Exon Consequence Institute Contributors

E1401X G to T at 4333 23 Glu to Stop at 1401 The Hospital for Sick Children,
Toronto, Canada

Sahlgrenska University Hospital
East Gothenberg, Sweden Zielenski J,
Tzountzouris J,
Tsui L-C,
Bjorck E,
Strandvik B,
Wahlstrom J
(Mar 18, 1998)

994del9 deletion of TTAAGACAG from 994 6b mRNA splicing mutation As Above As Above

3126del4 deletion of ATTA from 3126 17a frameshift As Above As Above

N1088D A to G at 3394 17b Asn to Asp at 1088 As Above As Above

I506L A to C at 1648 10 Ile to Leu at 506 As Above As Above

V603F G to T at 1939 13 Val to Phe at 603 As Above As Above

297-3C->A C to A at 297-3 intron 2 mRNA splicing mutation? As Above As Above

Note:
(E1401X) This mutation was found in one CF patient of Syrian origin. The second mutation was unknown. The patient had sweat chloride of 50 meq/l, pancreatic insufficiency and mild lung disease.
(994del9) This mutation was found in one CF patient with [delta]F508 on the other chromosome. The patient had sweat chloride of 134 meq/l, pancreatic insufficiency and moderate lung disease.
(3126del4) This mutation was found in one CF patient with E60X on the other allele. This patient's sweat chloride level was 100 meq/l; pancreatic insufficiency and moderate lung disease.

(N1088D) This mutation was found in one CF patient with [delta]F508 on the other chromosome and probably associated with R75Q. The patient had sweat chloride of 69 meq/l, pancreatic sufficiency and mild lung disease.
(I506L) The mutation was found in one Swedish CF patient by multiplex heteroduplex analysis on an MDE gel. The patient carried [delta]F508 on the other allele; the patient had sweat chloride of 103 meq/l, pancreatic sufficient, and mild lung disease.

(V603F) This mutation was found together with a sequence polymorphism at nucleotide position 1929 where A was present instead of T. V603F was found in 2 CF patients of East Indian origin. One of them carried [delta]F508 on the other allele, with sweat chloride level of 102 meq/l, pancreatic insufficiency and moderate lung disease. The other patient was found to carry the 5T variant in intron 8 but the phase with V603F (ie. cis or trans) could not be determined; the sweat chloride level of this patient was low 33 meq/l; pancreatic sufficient; mild lung disease.

(297-3C->A) The mutation was found in one Swedish CF patient by multiplex heteroduplex analysis on an MDE gel. The patient carried [delta]F508 on the other allele; the patient had sweat chloride of 90 meq/l, pancreatic sufficient, and mild lung disea se.

Contact: Julian Zielenski

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
E1401X	G to T at 4333	23	Glu to Stop at 1401	The Hospital for Sick Children, Toronto, Canada Sahlgrenska University Hospital East Gothenberg, Sweden	Zielenski J, Tzountzouris J, Tsui L-C, Bjorck E, Strandvik B, Wahlstrom J (Mar 18, 1998)
994del9	deletion of TTAAGACAG from 994	6b	mRNA splicing mutation	As Above	As Above
3126del4	deletion of ATTA from 3126	17a	frameshift	As Above	As Above
N1088D	A to G at 3394	17b	Asn to Asp at 1088	As Above	As Above
I506L	A to C at 1648	10	Ile to Leu at 506	As Above	As Above
V603F	G to T at 1939	13	Val to Phe at 603	As Above	As Above
297-3C->A	C to A at 297-3	intron 2	mRNA splicing mutation?	As Above	As Above
Note: (E1401X) This mutation was found in one CF patient of Syrian origin. The second mutation was unknown. The patient had sweat chloride of 50 meq/l, pancreatic insufficiency and mild lung disease. (994del9) This mutation was found in one CF patient with [delta]F508 on the other chromosome. The patient had sweat chloride of 134 meq/l, pancreatic insufficiency and moderate lung disease. (3126del4) This mutation was found in one CF patient with E60X on the other allele. This patient's sweat chloride level was 100 meq/l; pancreatic insufficiency and moderate lung disease. (N1088D) This mutation was found in one CF patient with [delta]F508 on the other chromosome and probably associated with R75Q. The patient had sweat chloride of 69 meq/l, pancreatic sufficiency and mild lung disease. (I506L) The mutation was found in one Swedish CF patient by multiplex heteroduplex analysis on an MDE gel. The patient carried [delta]F508 on the other allele; the patient had sweat chloride of 103 meq/l, pancreatic sufficient, and mild lung disease. (V603F) This mutation was found together with a sequence polymorphism at nucleotide position 1929 where A was present instead of T. V603F was found in 2 CF patients of East Indian origin. One of them carried [delta]F508 on the other allele, with sweat chloride level of 102 meq/l, pancreatic insufficiency and moderate lung disease. The other patient was found to carry the 5T variant in intron 8 but the phase with V603F (ie. cis or trans) could not be determined; the sweat chloride level of this patient was low 33 meq/l; pancreatic sufficient; mild lung disease. (297-3C->A) The mutation was found in one Swedish CF patient by multiplex heteroduplex analysis on an MDE gel. The patient carried [delta]F508 on the other allele; the patient had sweat chloride of 90 meq/l, pancreatic sufficient, and mild lung disea se. Contact: Julian Zielenski

Name Nucleotide Change Exon Consequence Institute Contributors

2856C/T C or T at 2856 15 polymorphism (Thr at 908 no change) Hopital Debrousse,
Lyon, France Bozon D
(Mar 19, 1998)

2064C/G C or G at 2064 13 polymorphism (Leu at 644 no change) As Above As Above

3199del6 deletion of ATAGTG from 3199 17a deletion of Ile at 1023 and Val at 1024 As Above As Above

622-103A/G A or G at 622-103 intron 4 polymorphism As Above As Above

675del4 deletion of TAGT from 675 5 frameshift As Above As Above

3271+101C/G C or G at 3271+101 intron 17a polymorphism As Above As Above

Y1014C A to G at 3173 17a Tyr to Cys at 1014 As Above As Above

Note:
(2856C/T) No further information.
(2064C/G) No futher information.
(3199del6) This in-frame deletion was found associated with I148T on the same CF allele.
(622-103A/G) No further comments.
(675del4) The mutation was identified in a French CF patient with [delta]F508 on the other chromosome.
(3271+101C/G) No further comment.
(Y1014C) This mutation was found a patient with inconclusive sweat test results.

Contact: Dominique Bozon

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
2856C/T	C or T at 2856	15	polymorphism (Thr at 908 no change)	Hopital Debrousse, Lyon, France	Bozon D (Mar 19, 1998)
2064C/G	C or G at 2064	13	polymorphism (Leu at 644 no change)	As Above	As Above
3199del6	deletion of ATAGTG from 3199	17a	deletion of Ile at 1023 and Val at 1024	As Above	As Above
622-103A/G	A or G at 622-103	intron 4	polymorphism	As Above	As Above
675del4	deletion of TAGT from 675	5	frameshift	As Above	As Above
3271+101C/G	C or G at 3271+101	intron 17a	polymorphism	As Above	As Above
Y1014C	A to G at 3173	17a	Tyr to Cys at 1014	As Above	As Above
Note: (2856C/T) No further information. (2064C/G) No futher information. (3199del6) This in-frame deletion was found associated with I148T on the same CF allele. (622-103A/G) No further comments. (675del4) The mutation was identified in a French CF patient with [delta]F508 on the other chromosome. (3271+101C/G) No further comment. (Y1014C) This mutation was found a patient with inconclusive sweat test results. Contact: Dominique Bozon

Name Nucleotide Change Exon Consequence Institute Contributors

2622+2del6 deletion of TAGGTA from 2622+2 intron 13 mRNA splicing mutation The Hospital for Sick Children,
Toronto, Canada

Sahlgrenska University Hospital
East Gothenburg, Sweden Zielenski J,
Tzountzouris J,
Tsui L-C,
Bjorck E,
Strandvik B,
Wahlstrom J
(Mar 19, 1998)

1112delT deletion of T at 1112 7 frameshift As Above As Above

Note:
(2622+2del6) The mutation was found in one Swedish CF patient by multiplex heteroduplex analysis on an MDE gel. The patient carried [delta]F508 on the other allele; the patient had sweat chloride of 102 meq/l, pancreatic insufficient, and moderate lung disease.

(1112delT) The mutation was found in two Swedish CF patients by multiplex heteroduplex analysis on an MDE gel. One patient with French ancestry carried [delta]F508 on the other allele; the patient had sweat chloride of 112 meq/l, pancreatic insufficient , and moderate lung disease. The second patient was homozygous for 1112delT; sweat chloride was 110 meq/l; also pancreatic insufficient and moderate lung disease.

Contact: Julian Zielenski

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
2622+2del6	deletion of TAGGTA from 2622+2	intron 13	mRNA splicing mutation	The Hospital for Sick Children, Toronto, Canada Sahlgrenska University Hospital East Gothenburg, Sweden	Zielenski J, Tzountzouris J, Tsui L-C, Bjorck E, Strandvik B, Wahlstrom J (Mar 19, 1998)
1112delT	deletion of T at 1112	7	frameshift	As Above	As Above
Note: (2622+2del6) The mutation was found in one Swedish CF patient by multiplex heteroduplex analysis on an MDE gel. The patient carried [delta]F508 on the other allele; the patient had sweat chloride of 102 meq/l, pancreatic insufficient, and moderate lung disease. (1112delT) The mutation was found in two Swedish CF patients by multiplex heteroduplex analysis on an MDE gel. One patient with French ancestry carried [delta]F508 on the other allele; the patient had sweat chloride of 112 meq/l, pancreatic insufficient , and moderate lung disease. The second patient was homozygous for 1112delT; sweat chloride was 110 meq/l; also pancreatic insufficient and moderate lung disease. Contact: Julian Zielenski

Name Nucleotide Change Exon Consequence Institute Contributors

406-3T->C T to C at 406-3 intron 3 mRNA splicing mutation? Bogazici University
Istanbul, Turkey Kilinc O,
Arikan Z,
Altinoz S,
Tolun A
(Mar 23, 1998)

Note:
(406-3T->C) The mutation was detected by DGGE and DNA sequencing. The second mutation of this patient was described as K68E. The patient showed lung disease at age of 29 months. His sweat chloride was 60 meq/l.

The DGGE primers were supplied by the European Community Concerted Action for the Coordination of Cystic Fibrosis Research and Therapy

Contact: Asli Tolun

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
406-3T->C	T to C at 406-3	intron 3	mRNA splicing mutation?	Bogazici University Istanbul, Turkey	Kilinc O, Arikan Z, Altinoz S, Tolun A (Mar 23, 1998)
Note: (406-3T->C) The mutation was detected by DGGE and DNA sequencing. The second mutation of this patient was described as K68E. The patient showed lung disease at age of 29 months. His sweat chloride was 60 meq/l. The DGGE primers were supplied by the European Community Concerted Action for the Coordination of Cystic Fibrosis Research and Therapy Contact: Asli Tolun

Name Nucleotide Change Exon Consequence Institute Contributors

2622+14G/A G or A at 2622+14 intron 13 polymorphism Ist Biologia e Genetica
Universita' di Verona
Italy Benetazzo MG,
Bombieri C,
Castellani C,
Pignatti PF
(Mar 30, 1998)

Note:
(2622+14G/A) The G to A sequence variation was found by DGGE analysis followed by sequencing, and confirmed with a Restriction Site Generating PCR assay. The A variant was found twice, in conjunction with N1303K, out of 36 chromosomes from neonates with transient hypertrypsinaemia and heterozygotes for a CF mutation. It was absent in 120 control chromosomes, in 102 chromosomes of Chronic Obstructive Pulmonary Disease patients and in 46 chromosomes of Diffuse Bronchiectasis patients.

Contact: Maria Giovanna Benetazzo

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
2622+14G/A	G or A at 2622+14	intron 13	polymorphism	Ist Biologia e Genetica Universita' di Verona Italy	Benetazzo MG, Bombieri C, Castellani C, Pignatti PF (Mar 30, 1998)
Note: (2622+14G/A) The G to A sequence variation was found by DGGE analysis followed by sequencing, and confirmed with a Restriction Site Generating PCR assay. The A variant was found twice, in conjunction with N1303K, out of 36 chromosomes from neonates with transient hypertrypsinaemia and heterozygotes for a CF mutation. It was absent in 120 control chromosomes, in 102 chromosomes of Chronic Obstructive Pulmonary Disease patients and in 46 chromosomes of Diffuse Bronchiectasis patients. Contact: Maria Giovanna Benetazzo

Name Nucleotide Change Exon Consequence Institute Contributors

S434X C to G at 1433 9 Ser to Stop at 434 (need info) (need info)
(Apr 02, 1998)

Note:
(S434X) The mutation was found in exon 9 of the CFTR gene in a young boy (1 year) heterozygote for [delta]F508. He was diagnosed at birth after detection of a meconial peritonite with echography at 27 SA. Direct sequencing of exon 20 revealed a C to G su bstitution at nucleotide position 1433 that alters the amino acid sequence from Serine to Stop codon at position 434 (S434X) in the CFTR protein.

Contact: Pierre Leymarie

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
S434X	C to G at 1433	9	Ser to Stop at 434	(need info)	(need info) (Apr 02, 1998)
Note: (S434X) The mutation was found in exon 9 of the CFTR gene in a young boy (1 year) heterozygote for [delta]F508. He was diagnosed at birth after detection of a meconial peritonite with echography at 27 SA. Direct sequencing of exon 20 revealed a C to G su bstitution at nucleotide position 1433 that alters the amino acid sequence from Serine to Stop codon at position 434 (S434X) in the CFTR protein. Contact: Pierre Leymarie

Name Nucleotide Change Exon Consequence Institute Contributors

S466X(TAG) C to G at 1529 10 Ser to Stop at 466
(Apr 07, 1998)

Note:
(S466X(TAG)) A new nomenclature is assigned to this mutation which was published in 1994.

Contact: None

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
S466X(TAG)	C to G at 1529	10	Ser to Stop at 466		(Apr 07, 1998)
Note: (S466X(TAG)) A new nomenclature is assigned to this mutation which was published in 1994. Contact: None

Name Nucleotide Change Exon Consequence Institute Contributors

W401X(TGA) G to A at 1335 8 Trp to Stop at 401 As Above Cuppens et al.
(Apr 07, 1998)

Note:
(W401X(TGA)) A new nomenclature is assigned to this mutation which was reported in 1993.

Contact: Harry Cuppens

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
W401X(TGA)	G to A at 1335	8	Trp to Stop at 401	As Above	Cuppens et al. (Apr 07, 1998)
Note: (W401X(TGA)) A new nomenclature is assigned to this mutation which was reported in 1993. Contact: Harry Cuppens

Name Nucleotide Change Exon Consequence Institute Contributors

2789+2insA insertion of A after 2789+2 intron 14b mRNA splicing mutation? (CAVD) University of Rennes I
France Dubourg C,
Jezequel P,
Blayau M
(Apr 10, 1998)

Note:
(2789+2insA) The mutation was detected by DGGE and identified by direct sequencing. It was found in a CAVD patient with [delta]F508.

Contact: Martine Blayau

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
2789+2insA	insertion of A after 2789+2	intron 14b	mRNA splicing mutation? (CAVD)	University of Rennes I France	Dubourg C, Jezequel P, Blayau M (Apr 10, 1998)
Note: (2789+2insA) The mutation was detected by DGGE and identified by direct sequencing. It was found in a CAVD patient with [delta]F508. Contact: Martine Blayau

Name Nucleotide Change Exon Consequence Institute Contributors

360delT deletion of T at 360 3 frameshift Groupe Hospitalier Cochin
Paris, France Bienvenu T,
Bousquet S,
Stephann,
Vidaud D,
Beldjord C
(Apr 17, 1998)

Note:
(360delT) The mutation was detected by DGGE and identified by direct sequencing in a patient with CBAVD. The other mutation of this patient is L997P. 360delT is not found in 200 other non-[delta]F508 CF chromosomes nor 200 non-CF chromosomes.

Contact: Thierry Bienvenu

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
360delT	deletion of T at 360	3	frameshift	Groupe Hospitalier Cochin Paris, France	Bienvenu T, Bousquet S, Stephann, Vidaud D, Beldjord C (Apr 17, 1998)
Note: (360delT) The mutation was detected by DGGE and identified by direct sequencing in a patient with CBAVD. The other mutation of this patient is L997P. 360delT is not found in 200 other non-[delta]F508 CF chromosomes nor 200 non-CF chromosomes. Contact: Thierry Bienvenu

Name Nucleotide Change Exon Consequence Institute Contributors

525delT deletion of T at 525 4 frameshift Institute of Molecular Genetics and Genetic Engineering
Belgrade, Yugoslavia

Center for Human Genetics
Leuven, Belgium Radojkovic D,
Kusic J,

Cuppens H,
Jaspers M
(May 06, 1998)

Note:
(525delT) We would like to report the new mutation (525 del T) detected in one Yugoslav CF family. The mutation was detected in a CF patient (N1303K/525delT) and in the mother of the affected child (525 del T/N). The methods applied for detecting and def ining the 525delT mutation were: DGGE of exon 4 of CFTR gene and subsequent automatic sequencing.

Contact: Dragica Radojkovic

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
525delT	deletion of T at 525	4	frameshift	Institute of Molecular Genetics and Genetic Engineering Belgrade, Yugoslavia Center for Human Genetics Leuven, Belgium	Radojkovic D, Kusic J, Cuppens H, Jaspers M (May 06, 1998)
Note: (525delT) We would like to report the new mutation (525 del T) detected in one Yugoslav CF family. The mutation was detected in a CF patient (N1303K/525delT) and in the mother of the affected child (525 del T/N). The methods applied for detecting and def ining the 525delT mutation were: DGGE of exon 4 of CFTR gene and subsequent automatic sequencing. Contact: Dragica Radojkovic

Name Nucleotide Change Exon Consequence Institute Contributors

E527G A to G at 1712 10 Glu to Gly at 527 Ist. Biologia e Genetica, Universita' di Verona Benetazzo MG,
Bombieri C,
Castellani C,
Pignatti PF.
(May 26, 1998)

Note:
(E527G) The mutation was found by DGGE analysis followed by sequencing, and confirmed with a Restriction Enzyme Analysis: it destroys a MboII restriction site. It was found once out of 36 chromosomes from neonates with transient hypertrypsinaemia and het erozygotes for a CF mutation.The mutation on the other
chromosome of the patient is [delta]F508. The mutation was absent in 120 control chromosomes, in 102 chromosomes of Chronic Obstructive Pulmonary Disease patients and in 46 chromosomes of Diffuse Bronchiectasis patients.

Contact: Maria Giovanna Benetazzo

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
E527G	A to G at 1712	10	Glu to Gly at 527	Ist. Biologia e Genetica, Universita' di Verona	Benetazzo MG, Bombieri C, Castellani C, Pignatti PF. (May 26, 1998)
Note: (E527G) The mutation was found by DGGE analysis followed by sequencing, and confirmed with a Restriction Enzyme Analysis: it destroys a MboII restriction site. It was found once out of 36 chromosomes from neonates with transient hypertrypsinaemia and het erozygotes for a CF mutation.The mutation on the other chromosome of the patient is [delta]F508. The mutation was absent in 120 control chromosomes, in 102 chromosomes of Chronic Obstructive Pulmonary Disease patients and in 46 chromosomes of Diffuse Bronchiectasis patients. Contact: Maria Giovanna Benetazzo

Name Nucleotide Change Exon Consequence Institute Contributors

P1072L C to T at 3347 17b Pro to Leu at 1072 Inst. Biology and Genetics, University of Verona Bombieri C,
Benetazzo MG,
Pignatti PF
(May 26, 1998)

L636P T to C at 2039 13 Leu to Pro at 636 As Above As Above

D651N G to A at 2083 13 Asp to Asn at 651 As Above As Above

Note:
(P1072L) P1072L was detected by DGGE analysis and identified by automatic sequencing in a COPD patient with chronic bronchitis. The mutation creates an Alu I restriction site. It was found once out of 104 chromosomes of COPD patients. It was never observ ed in 120 control chromosomes, in 46 chromosomes of DBE patients, and in 104 chromosomes of CF patients.
(L636P) L636P was detected by DGGE analysis and identified by automatic sequencing in a child with DBE. Sweat test and pancreatic function were normal. It was found once out of 28 chromosomes of children DBE patients. It was absent in 120 control chromos omes, in 104 chromosomes of COPD patients, in 46 chromosomes of DBE patients, and in 60 chromosomes of CF patients.
(D651N) D651N was detected by DGGE analysis and identified by automatic sequencing. The mutation destroys a Taq I restriction site. It was found once out of 120 control chromosomes, in a 60 years old male. It was absent in 104 chromosomes of Chronic Obs tructive Pulmonary Disease (COPD) patients, in 46 chromosomes of Diffuse Bronchiectasis (DBE) patients, and in 60 chromosomes of CF patients.

Contact: Cristina Bombieri

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
P1072L	C to T at 3347	17b	Pro to Leu at 1072	Inst. Biology and Genetics, University of Verona	Bombieri C, Benetazzo MG, Pignatti PF (May 26, 1998)
L636P	T to C at 2039	13	Leu to Pro at 636	As Above	As Above
D651N	G to A at 2083	13	Asp to Asn at 651	As Above	As Above
Note: (P1072L) P1072L was detected by DGGE analysis and identified by automatic sequencing in a COPD patient with chronic bronchitis. The mutation creates an Alu I restriction site. It was found once out of 104 chromosomes of COPD patients. It was never observ ed in 120 control chromosomes, in 46 chromosomes of DBE patients, and in 104 chromosomes of CF patients. (L636P) L636P was detected by DGGE analysis and identified by automatic sequencing in a child with DBE. Sweat test and pancreatic function were normal. It was found once out of 28 chromosomes of children DBE patients. It was absent in 120 control chromos omes, in 104 chromosomes of COPD patients, in 46 chromosomes of DBE patients, and in 60 chromosomes of CF patients. (D651N) D651N was detected by DGGE analysis and identified by automatic sequencing. The mutation destroys a Taq I restriction site. It was found once out of 120 control chromosomes, in a 60 years old male. It was absent in 104 chromosomes of Chronic Obs tructive Pulmonary Disease (COPD) patients, in 46 chromosomes of Diffuse Bronchiectasis (DBE) patients, and in 60 chromosomes of CF patients. Contact: Cristina Bombieri

Name Nucleotide Change Exon Consequence Institute Contributors

Q1382X C to T at 4276 23 Gln to Stop at 1382 Institut de Biologie,
Montpellier Claustres M,
Carles S
(May 26, 1998)

3755delG deletion of G between 3751 and 3755 19 frameshift As Above Claustres M,
Pallares N,
Megarbane A.
(May 26, 1998)

Note:
(Q1382X) This mutation was found by DGGE and identified by DNA sequencing in a CF patient from Southern France. The other CF allele carries [delta]F508. The patient was diagnosed at 9 years of age with a positive sweat test (Cl 100 mmol/l).
(3755delG) This mutation was found by DGGE and identified by DNA sequencing in a CF patient from Lebanon. The patient is homozygous for this deletion. The mutation does not modify any restriction site.

Contact: Mireille Claustres

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
Q1382X	C to T at 4276	23	Gln to Stop at 1382	Institut de Biologie, Montpellier	Claustres M, Carles S (May 26, 1998)
3755delG	deletion of G between 3751 and 3755	19	frameshift	As Above	Claustres M, Pallares N, Megarbane A. (May 26, 1998)
Note: (Q1382X) This mutation was found by DGGE and identified by DNA sequencing in a CF patient from Southern France. The other CF allele carries [delta]F508. The patient was diagnosed at 9 years of age with a positive sweat test (Cl 100 mmol/l). (3755delG) This mutation was found by DGGE and identified by DNA sequencing in a CF patient from Lebanon. The patient is homozygous for this deletion. The mutation does not modify any restriction site. Contact: Mireille Claustres

Name Nucleotide Change Exon Consequence Institute Contributors

3500-2A->G A to G at 3500-2 intron 17b mRNA splicing Groupe Hospitalier Cochin
Paris, France Vidaud D,
Keyeux G,
Bousquet S,
Beldjord C,
Bienvenu T
(May 29, 1998)

1323insA insertion of A after 1323 8 frameshift As Above Vidaud D,
Keyeux G,
Bousquet S,
Beldjord C,
Bienvenu T
(Jun 04, 1998)

Note:
(3500-2A->G) The mutation was detected by DGGE and identified by direct sequencing in a Columbian patient. It was not found in 100 other non-[delta]F508 CF chromosomes and 200 non-CF chromosomes.
(1323insA) This mutation was detected by DGGE and identified by direct sequencing in a Columbian patient. It is not found in 100 other non-[delta]F508 CF chromosomes and 200 non-CF chromosomes tested.

Contact: Thierry Bienvenu

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
3500-2A->G	A to G at 3500-2	intron 17b	mRNA splicing	Groupe Hospitalier Cochin Paris, France	Vidaud D, Keyeux G, Bousquet S, Beldjord C, Bienvenu T (May 29, 1998)
1323insA	insertion of A after 1323	8	frameshift	As Above	Vidaud D, Keyeux G, Bousquet S, Beldjord C, Bienvenu T (Jun 04, 1998)
Note: (3500-2A->G) The mutation was detected by DGGE and identified by direct sequencing in a Columbian patient. It was not found in 100 other non-[delta]F508 CF chromosomes and 200 non-CF chromosomes. (1323insA) This mutation was detected by DGGE and identified by direct sequencing in a Columbian patient. It is not found in 100 other non-[delta]F508 CF chromosomes and 200 non-CF chromosomes tested. Contact: Thierry Bienvenu

Name Nucleotide Change Exon Consequence Institute Contributors

D579A A to C at 1868 12 Asp to Ala at 579 Instituto Nacional de Saúde, Lisboa, Portugal Pacheco P,
Costa M,
Loureiro P,
Lavinha J
(Jun 21, 1998)

Note:
(D579A) The above mutation was discovered by DGGE and identified by direct sequencing. The D579A mutation has been found once in 197 non-[delta]F508 chromosomes from the Portuguese population. This mutation was found neither in 94 normal chromosomes nor in 76 with an identified CF mutation. The patient carries N1303K on the other chromosome and presented with severe lung disease and positive sweat tests.

Contact: Paula Pacheco

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
D579A	A to C at 1868	12	Asp to Ala at 579	Instituto Nacional de Saúde, Lisboa, Portugal	Pacheco P, Costa M, Loureiro P, Lavinha J (Jun 21, 1998)
Note: (D579A) The above mutation was discovered by DGGE and identified by direct sequencing. The D579A mutation has been found once in 197 non-[delta]F508 chromosomes from the Portuguese population. This mutation was found neither in 94 normal chromosomes nor in 76 with an identified CF mutation. The patient carries N1303K on the other chromosome and presented with severe lung disease and positive sweat tests. Contact: Paula Pacheco

Name Nucleotide Change Exon Consequence Institute Contributors

W356X G to A at 1200 7 Trp to Stop at 356 St. James's University Hospital
Leeds, UK Ellis L
(Jul 07, 1998)

E1123del Deletion of AAG at 3504 - 3506 18 deletion of Glu at 1123 As Above As Above

Note:
(W356X) This mutation has been detected in a CF patient and also in one of her parents. The mutation removes an AluI restriction site.
(E1123del) The mutation was detected in the homozygous state in a male from a consanguineous pedigree. The phenotype of this patient is congenital absence of the vas deferens (CBAVD).

Contact: Lucy Ellis

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
W356X	G to A at 1200	7	Trp to Stop at 356	St. James's University Hospital Leeds, UK	Ellis L (Jul 07, 1998)
E1123del	Deletion of AAG at 3504 - 3506	18	deletion of Glu at 1123	As Above	As Above
Note: (W356X) This mutation has been detected in a CF patient and also in one of her parents. The mutation removes an AluI restriction site. (E1123del) The mutation was detected in the homozygous state in a male from a consanguineous pedigree. The phenotype of this patient is congenital absence of the vas deferens (CBAVD). Contact: Lucy Ellis

Name Nucleotide Change Exon Consequence Institute Contributors

T360R C to G at 1211 7 polymorphism? (Thr to Arg at 360) Biochimie, Bat D,
Hopital Debrousse, Lyon, France Chevalier-Porst F,
Bozon D
(Jul 13, 1998)

4006-8T->A T to A at 4006-8 intron 20 mRNA splicing? As Above As Above

I502T T to C at 1637 10 Ile to Thr at 502 As Above As Above

C491R T to C at 1603 10 Cys to Arg at 491 As Above As Above

244delTA deletion of TA from 244 2 frameshift As Above As Above

W19X G to A at 189 2 Trp to Stop at 19 As Above As Above

Note:
(T360R) This sequence change was found on a CF chromosome also bearing [delta]F508 but it was found only once out of 1460 CF chromosomes screened.
(4006-8T->A) This substitution creates an Alu I site. The french CF patient has G542X on the other CF chromosome. This mutation was found once out of 1460 CF chromosomes screened.
(I502T) This substitution abolishes an MseI site. The french CF patient is homozygous for this misense
mutation. These are the only ones out of 1460 CF chromosomes screened.
(C491R) This misense has been found in a CF patient of North African origin with [delta]F508 on the other CF chromosome. This mutation was found once out of 1460 CF chromosomes screened.
(244delTA) This mutation creates a premature stop 6 codons downstream. The CF patient is French and has R553X on the other CF chromosome. This mutation was found once out of 1460 CF chromosomes screened.
(W19X) This substitution destroys an Ava II site. The patient has [delta]F508 on the other CF chromosome and his parent's origin is Tunisia. This mutation was found once out of 1460 CF chromosomes screened.

Contact: Dominique Bozon

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
T360R	C to G at 1211	7	polymorphism? (Thr to Arg at 360)	Biochimie, Bat D, Hopital Debrousse, Lyon, France	Chevalier-Porst F, Bozon D (Jul 13, 1998)
4006-8T->A	T to A at 4006-8	intron 20	mRNA splicing?	As Above	As Above
I502T	T to C at 1637	10	Ile to Thr at 502	As Above	As Above
C491R	T to C at 1603	10	Cys to Arg at 491	As Above	As Above
244delTA	deletion of TA from 244	2	frameshift	As Above	As Above
W19X	G to A at 189	2	Trp to Stop at 19	As Above	As Above
Note: (T360R) This sequence change was found on a CF chromosome also bearing [delta]F508 but it was found only once out of 1460 CF chromosomes screened. (4006-8T->A) This substitution creates an Alu I site. The french CF patient has G542X on the other CF chromosome. This mutation was found once out of 1460 CF chromosomes screened. (I502T) This substitution abolishes an MseI site. The french CF patient is homozygous for this misense mutation. These are the only ones out of 1460 CF chromosomes screened. (C491R) This misense has been found in a CF patient of North African origin with [delta]F508 on the other CF chromosome. This mutation was found once out of 1460 CF chromosomes screened. (244delTA) This mutation creates a premature stop 6 codons downstream. The CF patient is French and has R553X on the other CF chromosome. This mutation was found once out of 1460 CF chromosomes screened. (W19X) This substitution destroys an Ava II site. The patient has [delta]F508 on the other CF chromosome and his parent's origin is Tunisia. This mutation was found once out of 1460 CF chromosomes screened. Contact: Dominique Bozon

Name Nucleotide Change Exon Consequence Institute Contributors

N186K C to A at 690 5 Asn to Lys at 186 Institut de Biologie Montpellier, France Claustres M,
Carles S
(Aug 04, 1998)

3532AC->GTA AC to GTA from 3532 18 frameshift As Above Claustres M,
Des Georges M
(Aug 04, 1998)

D985H G to C at 3085 16 Asp to His at 985 As Above Claustres M,
Guittard C
(Aug 04, 1998)

2640delT deletion of T at 2640 14a frameshift As Above Claustres M,
Pallares N
(Aug 04, 1998)

Note:
(N186K) This missense mutation was found by DGGE and identified by DNA sequencing in a CF patient from Southern France. The patient carries [delta]F508 on the other chromosome. This patient presented a positive sweat test (chloride 88 mmol/l) and DDB. The change destroys an MmeI site.
(3532AC->GTA) This complex mutation was found by DGGE and identified by direct DNA sequencing in CF patient from Southern France. The patient carries [delta]F508 on the other CF chromosome.
(D985H) This missense mutation was found by DGGE and identified by direct sequencing in a CF patient from Southern France with [delta]F508 on the other chromosome. The change results in a new NdeII site.
(2640delT) This mutation was found by DGGE and identified by DNA sequencing in a CF child from Southern France. The patient carries N1303K on the other CF chromosome.

Contact: Mireille Claustres

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
N186K	C to A at 690	5	Asn to Lys at 186	Institut de Biologie Montpellier, France	Claustres M, Carles S (Aug 04, 1998)
3532AC->GTA	AC to GTA from 3532	18	frameshift	As Above	Claustres M, Des Georges M (Aug 04, 1998)
D985H	G to C at 3085	16	Asp to His at 985	As Above	Claustres M, Guittard C (Aug 04, 1998)
2640delT	deletion of T at 2640	14a	frameshift	As Above	Claustres M, Pallares N (Aug 04, 1998)
Note: (N186K) This missense mutation was found by DGGE and identified by DNA sequencing in a CF patient from Southern France. The patient carries [delta]F508 on the other chromosome. This patient presented a positive sweat test (chloride 88 mmol/l) and DDB. The change destroys an MmeI site. (3532AC->GTA) This complex mutation was found by DGGE and identified by direct DNA sequencing in CF patient from Southern France. The patient carries [delta]F508 on the other CF chromosome. (D985H) This missense mutation was found by DGGE and identified by direct sequencing in a CF patient from Southern France with [delta]F508 on the other chromosome. The change results in a new NdeII site. (2640delT) This mutation was found by DGGE and identified by DNA sequencing in a CF child from Southern France. The patient carries N1303K on the other CF chromosome. Contact: Mireille Claustres

Name Nucleotide Change Exon Consequence Institute Contributors

I125T T to C at 506 4 Ile to Thr at 125 Caen, France Mittre H
(Aug 26, 1998)

Note:
(I125T) The mutation was found in a Chinese woman by heteroduplex analysis. No additional information is available.

Contact: H Mittre

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
I125T	T to C at 506	4	Ile to Thr at 125	Caen, France	Mittre H (Aug 26, 1998)
Note: (I125T) The mutation was found in a Chinese woman by heteroduplex analysis. No additional information is available. Contact: H Mittre

Name Nucleotide Change Exon Consequence Institute Contributors

1249-27delTA deletion of TA at 1249-27 intron 7 mRNA splicing? Johns Hopkins University, Baltimore, USA Egan MM,
Wang X,
Cutting GR
(Sep 11, 1998)

Note:
(1249-27delTA) This mutation was found in a nine-year old patient with a diagnosis of ABPA. The patient also has central bronchiectasis, recurrent sinus infections, and pancreatitis. Sweat testing showed values of 46 and 49 mmol/L. Tests were negativ e for Pseudomonas. Screening of 16 common mutations ([delta]F508, R117H, W1282X, 621+1G->T, R334W, R347P, A455E, [delta]I507, 1717-1G->T, G542X, S549N, G551D, R553X, R560T, N1303K, 3849+10kbC->T) by reverse dot blot revealed the [delta]F508 muta tion on one allele. The 1249-27delTA mutation was found after screening all 27 exons by DGGE and sequencing of the exon 8 region.

Contact: Garry R. Cutting

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
1249-27delTA	deletion of TA at 1249-27	intron 7	mRNA splicing?	Johns Hopkins University, Baltimore, USA	Egan MM, Wang X, Cutting GR (Sep 11, 1998)
Note: (1249-27delTA) This mutation was found in a nine-year old patient with a diagnosis of ABPA. The patient also has central bronchiectasis, recurrent sinus infections, and pancreatitis. Sweat testing showed values of 46 and 49 mmol/L. Tests were negativ e for Pseudomonas. Screening of 16 common mutations ([delta]F508, R117H, W1282X, 621+1G->T, R334W, R347P, A455E, [delta]I507, 1717-1G->T, G542X, S549N, G551D, R553X, R560T, N1303K, 3849+10kbC->T) by reverse dot blot revealed the [delta]F508 muta tion on one allele. The 1249-27delTA mutation was found after screening all 27 exons by DGGE and sequencing of the exon 8 region. Contact: Garry R. Cutting

Name Nucleotide Change Exon Consequence Institute Contributors

CF25kbdel Complex deletion/rearrangement intron 3 ? Institute of Molecular Medicine,
University of Oxford Shackleton S,
Hull J,
Nuthall H,
Harris A
(Oct 22, 1998)

Note:
(CF25kbdel) Complex deletion/rearrangement centred on intron 3.
Detected as 25kb deletion from 135kb BssHII/Sfi fragment that extends from exon 1 to exon 14b.

Turkish cypriot patient. Severe disease. Carries 621+1G->T on other allele.

Contact: Ann Harris

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
CF25kbdel	Complex deletion/rearrangement	intron 3	?	Institute of Molecular Medicine, University of Oxford	Shackleton S, Hull J, Nuthall H, Harris A (Oct 22, 1998)
Note: (CF25kbdel) Complex deletion/rearrangement centred on intron 3. Detected as 25kb deletion from 135kb BssHII/Sfi fragment that extends from exon 1 to exon 14b. Turkish cypriot patient. Severe disease. Carries 621+1G->T on other allele. Contact: Ann Harris

Name Nucleotide Change Exon Consequence Institute Contributors

D891G A->G at 891 15 Asp->Gly at 891 Bogazici University,
Department of Molecular Biology and Genetics,
Istanbul, turkey Kilinc O,
Tolun A
(Nov 06, 1998)

(D891G) The mutation was detected by DGGE and DNA sequencing. It was observed on one allele of an adult male with only azoospermia.

DGGE primers were generously supplied by the European Community Concerted Action for the Coordination of Cystic Fibrosis Research and Therapy.

Contact: Asli Tolun