ABCC7 p.Lys464Asn
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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)].
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ABCC7 p.Lys464Asn 19710401:99:107
status: NEWX
ABCC7 p.Lys464Asn 19710401:99:258
status: NEW133 Mutations in CFTR Exon 9 and its Intronic Boundaries that Have Homologous Sequences in Other Chromosomes CFTR mutation Common nomenclature Nucleotide change Site of mutation* Consequences p.Lys464Asn K464N G to T at 1392 Exon 9 (no. 10) Lys to Asn at 464; mRNA splicing defect?
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ABCC7 p.Lys464Asn 19710401:133:190
status: NEWX
ABCC7 p.Lys464Asn 19710401:133:200
status: NEWX
ABCC7 p.Lys464Asn 19710401:133:237
status: NEW145 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.
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ABCC7 p.Lys464Asn 19710401:145:16
status: NEW
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].
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ABCC7 p.Lys464Asn 23261175:23:195
status: NEW77 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.
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ABCC7 p.Lys464Asn 23261175:77:78
status: NEW79 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.
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ABCC7 p.Lys464Asn 23261175:79:59
status: NEWX
ABCC7 p.Lys464Asn 23261175:79:70
status: NEW