NEWSLETTER #45, May 18, 1992
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1. Mutation reports:
Name Amino acid change Nucleotide change Exon Reference
406-1G->C splice mutation G->C at 406-1 intron 3 Bonizzato A and Gasparini
P (Apr 18)
L967S Leu->Ser at 967 T->C at 3032 15 Claustres M, Kjellberg P,
and Desgeorges M (Apr 23)
G1061R Gly->Arg at 1061 G->C at 3313 17b Férec C, Quere I,
Verlingue C, Audrezet MP,
Mercier B, and Guillermit
H (Apr 27)
F693L Phe->Leu at 693 T->C at 2209 13 Novelli G, Sangiuolo F,
Dallapiccola B, Férec C,
Mercier B, and Audrezet MP
(Apr 27)
L206W Leu->Trp at 206 T->G at 749 6a Claustres M, Desgeorges M
and Kjellberg P (Apr 28)
Y569C Tyr->Cys at 569 A->G at 1838 12 Plaseska D, Koceva S, and
Efremov GD (Apr 29)
I506S Ile->Ser at 506 T->G at 1649 10 Meitinger T,
Aulehla-Scholz, Böhm I,
and Deufel T (May 2)
S4X Ser->Stop at a.a. C->A at 143 1 Glavac D, Ravnik-Glavac M,
position 4 Komel R, and Dean M (May 3)
R347L Arg->Leu at 347 G->T at 1172 7 Férec C, Quere I,
Verlingue C, Audrezet MP,
Quillermit H and Mercier B
(May 7)
M348K Met->Lys at 348 T->A at 1175 7 Novelli G, Sangiuolo F,
Dallapiccola B, Férec C,
Quere I Mercier B, and
Audrezet MP (May 7)
Q151X Gln->Stop at 151 C->T at 583 4 Shackleton S and Harris A
(May 11)
I336K Ile->Lys at 336 T->A at 1139 7 Cuppens H, Marynen P and
Cassiman JJ (May 11)
394delTT frameshift deletion of TT at 394 3 Claustres M, Kjellberg P,
and Desgeorges M (May 12)
K830X Lys->Stop at 830 A->T at 2620 13 Lissens W, Bonduelle M,
Libaers I, Férec C, Quere
I, Mercier B, and Audrezet
MP (May 12)
E822K Glu->Lys at 822 G->A at 2596 13 Lissens W, Bonduelle M,
Libaers I, Férec C, Quere
I, Mercier B, and Audrezet
MP (May 12)
M1101R Met->Arg at 1101 T->G at 3434 17b Lissens W, Bonduelle M,
Libaers I, Férec C, Quere
I, Mercier B, and Audrezet
MP (May 12)
H199Y His->Tyr at 199 C->T at 727 6a Dörk T and Tümmler B (May
13)
2622+1G->A splice mutation G->A at 2622+1 intron Férec C, Quere I,
13 Verlingue C, Mercier B,
Audrezet MP and Quillermit
H (May 14)
H1054R His->Arg at 1054 A->G at 3293 17b Férec C, Quere I,
Verlingue C, Mercier B,
Audrezet MP and Quillermit
H (May 14)
S945L Ser->Leu at 945 C->T at 2966 15 Claustres M, Desgeorges M
and Kjellberg P (May 14)
2. DNA sequence polymorphisms/variations in the coding region:
Nucleotide position Amino acid change Exon Reference
3690 (A or G) no change (Gln at 1186) 19 Férec C, Quere I,
Verlingue C, Audrezet
MP, Mercier B, and
Guillermit H (Apr 27)
1059 (C or G) no change (Ala at 309) 7 Férec C, Quere I,
Verlingue C, Audrezet
MP, Quillermit H and
Mercier B (May 7)
3. DNA sequence polymorphism elsewhere in the CFTR gene:
Description Location Reference
3499+37G->A intron 17b Cuppens H, Marynen P and
Cassiman JJ (May 11)
4. Correction:
3359delCT (Mercier et al., NL#41) not 3358delAC Apology from Ferec et al.
A120T (Chillón et al., NL#44) G->A at 490 not 409 My apology
5. I have received many mutation screening reports. We are in the process of making the large table. Hopefully, we will have it done by the end of this month. Therefore, if you have not sent us your update as yet, please do so as soon as possible.
6. I would like to propose that the next general meeting for the consortium to be held in Dublin during the International CF Conference in September. Any objections?
Best regards,
Lap-Chee Tsui