PMID: 23907436

Lazrak A, Fu L, Bali V, Bartoszewski R, Rab A, Havasi V, Keiles S, Kappes J, Kumar R, Lefkowitz E, Sorscher EJ, Matalon S, Collawn JF, Bebok Z
The silent codon change I507-ATC->ATT contributes to the severity of the DeltaF508 CFTR channel dysfunction.
FASEB J. 2013 Nov;27(11):4630-45. doi: 10.1096/fj.13-227330. Epub 2013 Aug 1., [PubMed]
Sentences
No. Mutations Sentence Comment
111 ABCC7 p.Val470Met
X
ABCC7 p.Val470Met 23907436:111:223
status: NEW
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ABCC7 p.Val1475Met
X
ABCC7 p.Val1475Met 23907436:111:242
status: NEW
view ABCC7 p.Val1475Met details
 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). Login to comment 112 ABCC7 p.Val470Met
X
ABCC7 p.Val470Met 23907436:112:98
status: NEW
view ABCC7 p.Val470Met details
 This naturally occurring G&#a1;A (nt 2490) polymorphism results in a valine-to-methionine change (V470M; ref. 38) and is represented as b03;60% methionine (M) and 40% valine (V) in b0e;30,000 patient samples tested at Ambry Genetics. Login to comment 114 ABCC7 p.Val1475Met
X
ABCC7 p.Val1475Met 23907436:114:12
status: NEW
view ABCC7 p.Val1475Met details
 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). Login to comment