ABCMdb

ABCC7 p.Lys951Glu

None has been submitted yet.

Publications

PMID: 25443471 [PubMed] Marion H et al: "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."

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). Login to comment
74 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). Login to comment