ABCC7 p.Val1475Met
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 7757078
[PubMed]
Smit LS et al: "Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity."
No.
Sentence
Comment
109
The full length constructs contain a methionine for valine substitution at amino acid 1475 (V1475M).
X
ABCC7 p.Val1475Met 7757078:109:37
status: NEWX
ABCC7 p.Val1475Met 7757078:109:92
status: NEW110 V1475M CFTR is associated with wild-type activity in a Xenopus cocyte assay (12).
X
ABCC7 p.Val1475Met 7757078:110:0
status: NEW
PMID: 7694298
[PubMed]
Smit LS et al: "Functional roles of the nucleotide-binding folds in the activation of the cystic fibrosis transmembrane conductance regulator."
No.
Sentence
Comment
39
The full-length constructs contained a valine-for-methionine substitution at amino acid 1475 (V1475M).
X
ABCC7 p.Val1475Met 7694298:39:94
status: NEW
PMID: 23907436
[PubMed]
Lazrak A et al: "The silent codon change I507-ATC->ATT contributes to the severity of the DeltaF508 CFTR channel dysfunction."
No.
Sentence
Comment
111
In addition to the 3-nt deletion in èc;F508 CFTR and the T&#a1;C alteration in the I507-ATC èc;F508 CFTR (Fig. 1), we identified 2 G&#a1;A nonsynonymous codon alterations compared to the GenBank sequences (nt 2490; V470M and nt 4423; V1475M).
X
ABCC7 p.Val1475Met 23907436:111:242
status: NEW114 The nt 4423 V1475M polymorphism has not been reported previously and was found originally in the pcDNA3.1 wild-type CFTR expression vector constructed by Moyer et al. (40).
X
ABCC7 p.Val1475Met 23907436:114:12
status: NEW
PMID: 23974870
[PubMed]
Sosnay PR et al: "Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene."
No.
Sentence
Comment
509
The wild-type CFTR clone was obtained from an individual who did not have cystic fibrosis and encoded the known neutral variant p.Val1475Met.
X
ABCC7 p.Val1475Met 23974870:509:130
status: NEW