ABCC7 p.Trp1282Cys

ClinVar: c.3844T>G , p.Trp1282Gly ? , not provided
c.3846G>A , p.Trp1282* D , Pathogenic
c.3844T>C , p.Trp1282Arg ? , not provided
CF databases: c.3846G>A , p.Trp1282* D , CF-causing
c.3844T>G , p.Trp1282Gly (CFTR1) D , The mutation W1282G was detected by DGGE and direct sequencing in a patient from Brazil (Caucasian origin), she carries [delta]F508 on the other chromosome and he presents PI and mild lung disease.
c.3844T>C , p.Trp1282Arg (CFTR1) ? , In exon 20 we have found one Russian patient with the mutation T3976C. This mutation creates an AciI site. This enzyme also cuts DNA with the A4002G polymorphism. The two can be distinguished based on the size of the products.
c.3846G>T , p.Trp1282Cys (CFTR1) ? , Found by DGGE and DNA sequencing. (CF patient, genotype [delta]F508/W1282C)
Predicted by SNAP2: A: D (85%), C: D (85%), D: D (95%), E: D (95%), F: D (80%), G: D (95%), H: D (95%), I: D (80%), K: D (95%), L: D (71%), M: D (85%), N: D (95%), P: D (95%), Q: D (95%), R: D (75%), S: D (95%), T: D (95%), V: D (80%), Y: D (85%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: N, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, Y: N,

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[hide] Sobczynska-Tomaszewska A, Oltarzewski M, Czerska K, Wertheim-Tysarowska K, Sands D, Walkowiak J, Bal J, Mazurczak T
Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.
Eur J Hum Genet. 2012 Aug 15. doi: 10.1038/ejhg.2012.180., [PMID:22892530]

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[hide] Schrijver I, Oitmaa E, Metspalu A, Gardner P
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
J Mol Diagn. 2005 Aug;7(3):375-87., [PMID:16049310]

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