Mutation Details for c.1647T>G
|
|
cDNA Name
|
c.1647T>G
|
|
Protein Name
|
p.Ser549Arg
|
|
Exon or Intron
|
exon 12
|
|
Legacy Exon or Intron
|
exon 11
|
|
|
S549R(T->G)
|
|
Other Details
|
The CF chromosome with this mutation is carried by a non-Ashkenazic Jewish patient in Morocco. The chromosome also has the B haplotype. Detection of this mutation may be achieved by ASO hybridization or allele-specific PCR.
|
|
Contributors
|
Kerem B,
Tsui LC
1990-02-09
|
|
Institute
|
The Hospital for Sick Children
Toronto, ON, Canada
|
|
Submitted Phenotype Details
|
This mutation was reported in 19 patients.
1-12. These patients (8F, 4M) have a mean age of 4.1y. They all have PI, the mean sweat-chloride levels 119mEq/l and they all have extremely severe lung disease, with hyperinflation, bronchiectasis and infections (all patients experienced complications at time of diagnosis). None of the patients had meconium ileus at birth.
All patients are homozygous for S549R(T>G)
(Fossard et al. 1999)
13. Patient (F) is 34y, has PI, severe lung disease (FEV1=30%) and PA colonisation. Sweat-chloride levels are unknown.
This patient is homozygous for -102T>A, S549R(T>G).
14. Patient (F) is 38y, has PS, severe lung disease (FEV1=19.3%) and sweat-chloride levels <60mM/l.
-102T>A was found on the same allele as S549R(T>G), R334W was found on the other allele.
15. Patient (F) is 6y, has PS, FEV1=89% and sweat-chloride levels of 122mM/l.
-102T>A was found on the same allele as S549R(T>G), DeltaF508 was found on the other allele.
16. Patient (F) is 31y, has PI. FEV1=60% and sweat-chloride levels of 66mM/l.
-102T>A was found on the same allele as S549R(T>G), DeltaF508 was found on the other allele.
17. Patient (M) is 23, has PI, FEV1=59% and sweat-chloride levels of 72mM/l.
-102T>A was found on the same allele as S549R(T>G), G542X was found on the other allele.
18. Patient (M) is 18y, has PS, FEV1=89% and sweat-chloride levels of 85mM/l.
-102T>A was found on the same allele as S549R(T>G), S945L was found on the other allele.
(Patients 13 to 18: Romey et al. 1999)
19. Patient (M) is 16y, his pancreatic status in undetermined, FEV1 is normal and sweat-chloride levels 105mEq/l.
R1158X was found on the other allele.
(Fossard et al. 2000)
|
|
Reference
|
Kerem et al. 1990
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
