ABCC7 p.Leu327Arg

CF databases: c.980T>G , p.Leu327Arg (CFTR1) ? , This mutation is a substitution of T to G at position 1112 in nucleotide sequence and causes the replacement of a leucine by arginine residue in codon 327. This variation was observed by SSCP analysis during screening of CF samples for mutations. We are currently investigating wheter or not this alteration is a mutation or polymorphism.
Predicted by SNAP2: A: N (53%), C: N (61%), D: D (80%), E: D (71%), F: N (87%), G: D (71%), H: D (66%), I: N (72%), K: D (63%), M: N (72%), N: D (71%), P: D (80%), Q: D (63%), R: D (75%), S: D (63%), T: D (59%), V: N (93%), W: D (63%), Y: D (59%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: N, G: D, H: D, I: N, K: N, M: N, N: D, P: D, Q: N, R: D, S: D, T: N, V: N, W: D, Y: N,

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[hide] Chen JM, Ferec C
Molecular basis of hereditary pancreatitis.
Eur J Hum Genet. 2000 Jul;8(7):473-9., [PMID:10909845]

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[hide] Rolston RK, Kant JA
Genetic testing in acute and chronic pancreatitis.
Curr Gastroenterol Rep. 2001 Apr;3(2):115-20., [PMID:11276378]

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[hide] Witt H, Becker M
Genetics of chronic pancreatitis.
J Pediatr Gastroenterol Nutr. 2002 Feb;34(2):125-36., [PMID:11840029]

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[hide] Ravnik-Glavac M, Glavac D, Dean M
Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.
Hum Mol Genet. 1994 May;3(5):801-7., [PMID:7521710]

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