ABCMdb

ABCC7 p.Asn416Ser

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Publications

PMID: 19897426 [PubMed] Picci L et al: "A 10-year large-scale cystic fibrosis carrier screening in the Italian population."

No. Sentence Comment

131 Aminoacid change Nucleotide change A349V 1178C→T D372E 1251T→G D674V 2153A→T D806G 2549A→G I586V 1888A→G I807V 2551A→G I840T 2651T→C L1335F 4135C→T L1414S 4373T→C L1480P 4571T→C M348T 1175T→C N416S 1379A→G P1290T 4000C→T P355S 1195C→T Q1268R 3935A→G Q1352E 4186C→G S431G 2423A→G S660T 2110T→A S911R 2865T→G T1263A 3919A→G T788I 2495C→T V920L 2890G→T Y1381H 4273T→C Y84H 382T→C two CFTR mutations and who had not been previously diagnosed with CF [29]. Login to comment

PMID: 19710401 [PubMed] El-Seedy A et al: "Influence of the duplication of CFTR exon 9 and its flanking sequences on diagnosis of cystic fibrosis mutations."

No. Sentence Comment

99 Several variations have been identified in exon 9, including four possible mutations shown in Figure 2A: p.Lys464Asn, c.1328_1329delAT, c.1235delC, and p.Asn416ser (http://www.genet.sickkids.on.ca/cftr/; last accessed 24/12/2008) [Personal communications: p.Lys464Asn (E. Bleth, V. Gaston, P. Gautry), c.1328_1329delAT (T. Bienvenu, L. Tchertkoff, C. Cazeneuve, C Beldjord), c.1235delC (C. Fe´rec), and p.Asn416Ser (L. Picci, M. Cameran, O. Marangon, D. Marzenta, M. Scarpa)]. Login to comment
134 c.1328_1329delAT 1460delAT Deletion of AT from 1328 Exon 9 (no. 10) Frameshift c.1235delC 1367delC Deletion of C at 1235 Exon 9 (no. 10) Frameshift p.Asn416Ser N416S A to G at 1247 Exon 9 (no. 10) Asn to Ser at 416 c.1392 ϩ 6insC; c.1392 ϩ 12GϾA 1524 ϩ 6insC 1524 ϩ 12GϾA Insertion of C after 1392 ϩ 6, G to A at 1392 ϩ 12 Intron 9 (no. 10) mRNA splicing defect? Login to comment
145 These include p.Lys464Asn, c.1328_1329delAT, c.1235delC, and p.Asn416Ser in exon 9, and c.1392 ϩ 6insC; c.1392 ϩ 12GϾA in intron 9. Login to comment

PMID: 23261175 [PubMed] El-Seedy A et al: "Consequences of partial duplications of the human CFTR gene on cf diagnosis: mutations or ectopic variations."

No. Sentence Comment

23 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
83 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