ABCC7 p.Thr338Met
| ClinVar: |
c.1012A>G
,
p.Thr338Ala
?
, not provided
c.1013C>T , p.Thr338Ile D , Pathogenic |
| CF databases: |
c.1013C>T
,
p.Thr338Ile
D
, CF-causing ; CFTR1: A nucleotide change C->T at position 1145 which causes the replacement of a Threonine by Isoleucine residue in codon 338 of exon 7.
c.1012A>G , p.Thr338Ala (CFTR1) ? , This mutation was identified in one Iranian CBAVD patient. |
| Predicted by SNAP2: | A: D (85%), C: D (91%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (53%), K: D (95%), L: D (95%), M: D (95%), N: D (91%), P: D (95%), Q: D (95%), R: D (95%), S: D (91%), V: D (85%), W: D (95%), Y: D (95%), |
| Predicted by PROVEAN: | A: N, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: N, P: N, Q: D, R: D, S: N, V: N, W: D, Y: D, |
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[hide] Cystic fibrosis in Arabs: a prototype from Jordan. Ann Trop Paediatr. 2000 Dec;20(4):283-6. Rawashdeh M, Manal H
Cystic fibrosis in Arabs: a prototype from Jordan.
Ann Trop Paediatr. 2000 Dec;20(4):283-6., [PMID:11219165]
Abstract [show]
Cystic fibrosis is believed to be rare in Arabs. We report 202 cases (114 boys and 88 girls) diagnosed in Jordan over a period of 9 years. The mean age at diagnosis was 2.9 years. Classical presentation with growth failure, malabsorption and respiratory symptoms occurred in 75.4% of cases. Eighteen (10.8%) presented with hepatomegaly, 12 (7.2%) with meconium ileus and 11 (6.6%) had Pseudo-Bartter syndrome. Thirty-eight (23%) children died, most below the age of 1 year which may reflect a more severe disease in our population. Consanguineous marriage was present in 69% of cases. Genetic screening of 84 children and 66 parents revealed 24 different CFTR mutations with a DF508 mutation accounting for only 7.4%. Among the mutations detected, six were alleles identified for the first time. The fact that boys outnumber girls might reflect more deaths in girls due to the observed gender gap in CF mortality. It is possible that the low incidence of the DF508 mutation is due to a confounding effect and the high mortality in those carrying this mutation. The large number of different mutations reflects the ethnic diversity of the Jordanian population and the complex history of the country.
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No. Sentence Comment
46 T, T338M, T760M, 3670delA, 4006delA and G1244D).
X
ABCC7 p.Thr338Met 11219165:46:3
status: NEW