ABCC7 p.Ser945Tyr

ClinVar: c.2834C>T , p.Ser945Leu D , Pathogenic
c.2835G>A , p.Ser945= N , Likely benign
CF databases: c.2834C>T , p.Ser945Leu D , CF-causing ; CFTR1: This mutation was detected by SSCP analysis then identified by sequencing. The nucleotide change is a C->T at position 2966 and destroys a TaqI restriction site.
Predicted by SNAP2: A: N (61%), C: D (63%), D: D (85%), E: D (85%), F: D (80%), G: D (59%), H: D (75%), I: D (75%), K: D (85%), L: D (75%), M: D (75%), N: D (66%), P: D (85%), Q: D (80%), R: D (85%), T: D (66%), V: D (71%), W: D (80%), Y: D (80%),
Predicted by PROVEAN: A: N, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: N, P: D, Q: D, R: D, T: N, V: D, W: D, Y: D,

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[hide] Poulou M, Fylaktou I, Fotoulaki M, Kanavakis E, Tzetis M
Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene.
J Cyst Fibros. 2012 Jul;11(4):344-8. doi: 10.1016/j.jcf.2012.01.004. Epub 2012 Feb 11., [PMID:22326559]

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