ABCMdb

PMID: 23261175

El-Seedy A, Pasquet MC, Bienvenu T, Bieth E, Audrezet MP, Kitzis A, Ladeveze V
Consequences of partial duplications of the human CFTR gene on cf diagnosis: mutations or ectopic variations.
J Cyst Fibros. 2013 Jul;12(4):407-10. doi: 10.1016/j.jcf.2012.11.006. Epub 2012 Dec 21., [PubMed]

Sentences

No. Mutations Sentence Comment

23 ABCC7 p.Asn416Ser ABCC7 p.Asn416Ser ABCC7 p.Lys464Asn Indeed, our previous results suggested that several mutations described in exon 10 and its flanking regions may in fact be ectopic variations from sequences detected in pseudogenes: c.1392GNT (p.Lys464Asn, 1524GNT), c.1338_13 39delAT (p.Ile444X, 1460delAT), c.1235delC (p.Ala412GlufsX 30, 1367delC), and c.1247ANG (p.Asn416Ser, N416S) [4]. Login to comment 39 ABCC7 p.Leu206Trp ABCC7 p.Leu206Trp He revealed the heterozygous presence of c.1521_1523delCTT (p.Phe508del, F508del) and c.617TNG (p.Leu206Trp, L206W) mutations (Bienvenue T, personal communication). Login to comment 77 ABCC7 p.Lys464Asn The c.1392GNT mutation is a transversion in exon 10, which causes a change of Lysine to Asparagine at position 464 of the CFTR polypeptide. Login to comment 79 ABCC7 p.Lys464Asn ABCC7 p.Lys464Asn The effect of the predicted splicing mutation c.1392GNT (p.Lys464Asn, K464N) was analyzed by computer-assisted splice-site prediction using Human Splicing folder website. Login to comment 83 ABCC7 p.Asn416Ser ABCC7 p.Asn416Ser ABCC7 p.Asn416Ser The c.1247ANG (p.Asn416Ser, N416S) mutation is a transition mutation of c.124 7ANG in exon 10 (Fig. 2b), which causes a change in asparagine to serine at position 416 of the CFTR polypeptide. Login to comment