ABCC7 p.Ser589Asn

ClinVar: c.1766G>T , p.Ser589Ile ? , not provided
c.1766G>C , p.Ser589Thr ? , not provided
c.1766G>A , p.Ser589Asn ? , not provided
CF databases: c.1766G>A , p.Ser589Asn (CFTR1) ? , The above mutation was detected by DGGE and characterized by direct sequencing. S586N probably affects RNA splicing. It was found in a male with CF carrying [delta]F508 on the other allele. The change was not observed in 100 other CFTR alleles from 50 unrelated individuals without family history of CF.
c.1766G>T , p.Ser589Ile (CFTR1) ? , This mutation was detected by DGGE and identified by direct sequencing. The mutation was found in a CF patient who is also heterozygous for [delta]F508 and G576A (phase yet to be established). The DGGE primers were generously supplied by Prof Michel Goossens on behalf of the European Community Concerted Action for the Co-ordination of Cystic Fibrosis Research and Therapy. We have seen this mutation only once in over 200 non-[delta]F508 chromosomes screened, in this patient referred by the East Anglican Regional Genetics Service at Cambridge (UK).
Predicted by SNAP2: A: N (82%), C: N (61%), D: N (78%), E: N (78%), F: D (63%), G: N (82%), H: N (82%), I: N (61%), K: N (93%), L: N (66%), M: D (53%), N: N (87%), P: N (61%), Q: N (87%), R: N (82%), T: N (87%), V: N (66%), W: D (66%), Y: D (59%),
Predicted by PROVEAN: A: N, C: D, D: N, E: N, F: D, G: N, H: N, I: D, K: N, L: D, M: N, N: N, P: N, Q: N, R: N, T: N, V: D, W: D, Y: N,

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[hide] Perri F, Piepoli A, Stanziale P, Merla A, Zelante L, Andriulli A
Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis.
Eur J Hum Genet. 2003 Sep;11(9):687-92., [PMID:12939655]

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[hide] Stanziale P, Savino M, De Bonis P, Granatiero M, Zelante L, Bisceglia L
Indirect CFTR mutation identification by PCR/OLA anomalous electropherograms.
Genet Test. 2005 Winter;9(4):285-91., [PMID:16379540]

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[hide] Merelle ME, Scheffer H, De Jong D, Dankert-Roelse JE
Extended gene analysis can increase specificity of neonatal screening for cystic fibrosis.
Acta Paediatr. 2006 Nov;95(11):1424-8., [PMID:17062471]

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