ABCC7 p.Ser1159Pro

ClinVar: c.3476C>T , p.Ser1159Phe ? , not provided
c.3475T>C , p.Ser1159Pro ? , not provided
CF databases: c.3475T>C , p.Ser1159Pro (CFTR1) D , The S1159P mutation was seen on 1 US Caucasian chromosome of 48 screened. ASo analysis revealed that this alteration was nto present on 171 non-CF Caucasian chromosomes. This missense mutation is compounded with the [delta]F508. The patient is a 44 year old female who was diagnosed at the age of 35 years. She is pancreatic sufficient, with moderate lung disease and sweat chloride concentration of 104 mmol/L.
c.3476C>T , p.Ser1159Phe (CFTR1) D , This mutation was also reported by Seydewitz H H et al. on 8/11/2000. Published in Human Mutation; Mutation and Polymorphism Report #107 Online, Print 2000;15:390
Predicted by SNAP2: A: D (59%), C: D (59%), D: D (91%), E: D (91%), F: D (91%), G: D (71%), H: D (85%), I: D (85%), K: D (91%), L: D (91%), M: D (85%), N: D (71%), P: D (85%), Q: D (85%), R: D (91%), T: D (66%), V: D (85%), W: D (91%), Y: D (91%),
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: D, P: D, Q: D, R: D, T: N, V: D, W: D, Y: D,

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[hide] Salvatore F, Scudiero O, Castaldo G
Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.
Am J Med Genet. 2002 Jul 22;111(1):88-95., 2002-07-22 [PMID:12124743]

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[hide] Kharrazi M, Yang J, Bishop T, Lessing S, Young S, Graham S, Pearl M, Chow H, Ho T, Currier R, Gaffney L, Feuchtbaum L
Newborn Screening for Cystic Fibrosis in California.
Pediatrics. 2015 Dec;136(6):1062-72. doi: 10.1542/peds.2015-0811. Epub 2015 Nov 16., [PMID:26574590]

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