ABCC7 p.Gly542Trp
| ClinVar: |
c.1624G>T
,
p.Gly542*
D
, Pathogenic
|
| CF databases: |
c.1624G>T
,
p.Gly542*
D
, CF-causing
c.1625G>A , p.Gly542Glu (CFTR1) ? , |
| Predicted by SNAP2: | A: N (53%), C: D (71%), D: D (85%), E: D (85%), F: D (85%), H: D (85%), I: D (85%), K: D (91%), L: D (85%), M: N (53%), N: D (80%), P: D (91%), Q: D (80%), R: D (91%), S: N (53%), T: D (80%), V: D (80%), W: D (91%), Y: D (85%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] [Male infertility caused by bilateral agenesis of ... Rev Med Interne. 1997;18(2):114-8. Durieu I, Bey-Omar F, Rollet J, Boggio D, Bellon G, Morel Y, Vital Durand D
[Male infertility caused by bilateral agenesis of the vas deferens: a new clinical form of cystic fibrosis?].
Rev Med Interne. 1997;18(2):114-8., [PMID:9092029]
Abstract [show]
Congenital bilateral absence of vas deferens causes male excretory infertility and represents 1 to 2% of male infertility. Because of a genotypic similarity with cystic fibrosis, the possible in vitro fertilization with epididymal sperm requires careful genetic counselling. We studied genotype, sweat chloride concentration, respiratory function tests, sinus abnormalities, pancreatic and hepatic functions in 22 subjects with congenital bilateral absence of vas deferens. Among them, four were compound heterozygotus, all of them with the R117H mutation. Ten had a positive sweat test, one of them also being compound heterozygotus. Congenital bilateral absence of vas deferens and double mutation or positive sweat test led to high probable cystic fibrosis diagnosis in 13 subjects. Six subjects were heterozygotus for one cystic fibrosis mutation, criterium which is not sufficient for cystic fibrosis diagnosis; five of them had sinus abnormalities, present in 11 of the 22 subjects. Only three patients had no mutation nor sweat chloride abnormalities. This work confirms the high frequency of cystic fibrosis mutations in males with congenital bilateral absence of vas deferens, with a higher frequency of positive sweat test than in other publications, and a high frequency of sinus abnormalities. This monosymptomatic phenotype of cystic fibrosis suggests new hypotheses for a relationship between genotype and phenotype.
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No. Sentence Comment
73 A F508/ - - - A F508/- - - AF508/--- A F508 I- - - AF508/R117H ---,--- G542W - - - AF508i--- ---/--- ---,--- A F508&117H A F508/R117H A F508 I- - R347HlR117H A F508 I- - - A F508 /- - - A F508 /- - - A F508 /- - - A F508 f- - .
X
ABCC7 p.Gly542Trp 9092029:73:71
status: NEW