ABCC7 p.Lys951Glu
| Predicted by SNAP2: | A: D (53%), C: N (61%), D: D (63%), E: D (75%), F: D (71%), G: D (53%), H: N (78%), I: N (53%), L: N (53%), M: N (57%), N: N (82%), P: D (75%), Q: N (93%), R: N (93%), S: N (82%), T: N (57%), V: N (53%), W: D (66%), Y: D (63%), |
| Predicted by PROVEAN: | A: N, C: D, D: N, E: N, F: D, G: N, H: N, I: D, L: D, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: D, W: D, Y: D, |
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[hide] The p.Gly622Asp (G622D) mutation, frequently found... J Cyst Fibros. 2015 May;14(3):305-9. doi: 10.1016/j.jcf.2014.11.001. Epub 2014 Nov 28. Marion H, Natacha G, Brigitte M, Francois C, Michel R, Corinne T, Emmanuelle G, Thierry B
The p.Gly622Asp (G622D) mutation, frequently found in Reunion Island and in black populations, is associated with a wide spectrum of CF and CFTR-RD phenotypes.
J Cyst Fibros. 2015 May;14(3):305-9. doi: 10.1016/j.jcf.2014.11.001. Epub 2014 Nov 28., [PMID:25443471]
Abstract [show]
Examination of genotype-phenotype correlations along with functional evaluation of CFTR mutations may not be straightforward. The c.1865G>A, p.Gly622Asp (G622D), located at the NBD1 C terminus of the CFTR protein, was initially reported in patients with male infertility. However, the substitution of Gly622 by an aspartic acid in vitro would perturb the local structure or even affect the CFTR folding itself. In order to determine whether p.Gly622Asp affects the risk of developing a CFTR-Related disorder (CFTR-RD) or cystic fibrosis (CF), we analyzed the phenotype of subjects bearing the p.Gly622Asp mutation. We report molecular and clinical analyses in eleven unrelated patients with CF or CFTR-RD with compound heterozygosity for the p.Gly622Asp mutation. On the basis of the clinical features presented by the eleven patients, we postulate that the p.Gly622Asp might be associated with a wide spectrum of phenotypes including classical cystic fibrosis.
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No. Sentence Comment
56 p.Gly622Asp was also detected in three fetuses who were studied because of hyperechogenic bowel and were found to carry a CFTR-RD variant such as c.2851A N G, p.Lys951Gln (K951E), c.1210-12T[5] and c.1584G N A (1716G N A) (Table 3).
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ABCC7 p.Lys951Glu 25443471:56:172
status: NEW74 Mutation 1 Mutation 2 5/7/9T allelea TG repeatb Codon 470 c.3717 + 45G N A Codon 854 5'UTR Patients with cystic fibrosis MUC821 p.Gly622Asp p.Tyr122Ter T7;T7 nd VV No c.2562T N G homo c.-8G N C MUC822 p.Gly622Asp p.Tyr122Ter T7;T7 nd VV No c.2562T N G homo c.-8G N C MUC940 p.Gly622Asp p.Tyr122Ter T7;T7 nd VV No No c.-8G N C R156C p.Gly622Asp c.2988 + 1G N A T7;T7 nd MV No c.2562T N G No Patients with male infertility MUC2815 p.Gly622Asp c.2988 + 1G N A T7;T7 nd nd No nd No MUC3913 p.Gly622Asp p.Phe508del T7;T9 nd MV No No No MUC4216 p.Gly622Asp p.Phe508del T7;T9 nd MV Yes No No MUC4811 p.Gly622Asp c.1210-12T[5] T5;T7 TG11;TG12 VV No No No Fetuses with hyperechogenic bowel MUC5131 p.Gly622Asp c.1210-12T[5] T5;T7 TG11;TG12 MV Yes c.2562T N G No MUC6775 p.Gly622Asp p.Lys951Glu T7;T7 nd MV No c.2562T N G No MUC4196 p.Gly622Asp c.1584G N A T7;T7 nd nd No nd No a c.1210-12T(5_9).
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ABCC7 p.Lys951Glu 25443471:74:775
status: NEW