ABCC7 p.Asn1148Lys

ClinVar: c.3444C>A , p.Asn1148Lys ? , not provided
c.3443A>G , p.Asn1148Ser ? , not provided
CF databases: c.3443A>G , p.Asn1148Ser (CFTR1) ? ,
c.3444C>A , p.Asn1148Lys (CFTR1) ? , This mutation was found by DGGE and direct DNA sequencing in a child with bronchiectasis and sweat test borderline.
Predicted by SNAP2: A: D (66%), C: D (66%), D: D (80%), E: D (80%), F: D (75%), G: D (75%), H: D (80%), I: D (66%), K: D (63%), L: D (71%), M: D (71%), P: D (85%), Q: D (63%), R: D (66%), S: D (63%), T: D (66%), V: D (63%), W: D (91%), Y: D (80%),
Predicted by PROVEAN: A: N, C: D, D: N, E: N, F: D, G: N, H: N, I: N, K: N, L: N, M: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: D, Y: N,

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[hide] de Cid R, Ramos MD, Aparisi L, Garcia C, Mora J, Estivill X, Farre A, Casals T
Independent contribution of common CFTR variants to chronic pancreatitis.
Pancreas. 2010 Mar;39(2):209-15., [PMID:19812525]

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