ABCC7 p.Gly91Ala

ClinVar: c.271G>A , p.Gly91Arg D , Pathogenic
CF databases: c.271G>A , p.Gly91Arg (CFTR1) D , This mutation was observed through DGGE screening and direct DNA sequencing. The substitution is a G->A at nucleotide position 403. It changes a glycine residue for an arginine G91R. The haplotype bearing the mutation is a C haplotype. The CF child has a [delta]F508 on th other chromosome. He is 9 years old and pancreatic sufficient. The substitution was observed once on 87 non-[delta]F508 chromosomes and non oberved on 70 [delta]F508 chromosomes.
Predicted by SNAP2: A: D (75%), C: D (85%), D: D (91%), E: D (91%), F: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (91%), M: D (95%), N: D (91%), P: D (95%), Q: D (91%), R: D (59%), S: D (85%), T: D (85%), V: D (85%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: N, C: D, D: N, E: N, F: D, H: N, I: D, K: D, L: D, M: D, N: N, P: D, Q: N, R: D, S: N, T: N, V: D, W: D, Y: N,

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[hide] Dawson DC, Smith SS, Mansoura MK
CFTR: mechanism of anion conduction.
Physiol Rev. 1999 Jan;79(1 Suppl):S47-75., [PMID:9922376]

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[hide] Patrick AE, Karamyshev AL, Millen L, Thomas PJ
Alteration of CFTR transmembrane span integration by disease-causing mutations.
Mol Biol Cell. 2011 Dec;22(23):4461-71. Epub 2011 Oct 12., [PMID:21998193]

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[hide] Mansoura MK, Smith SS, Choi AD, Richards NW, Strong TV, Drumm ML, Collins FS, Dawson DC
Cystic fibrosis transmembrane conductance regulator (CFTR) anion binding as a probe of the pore.
Biophys J. 1998 Mar;74(3):1320-32., [PMID:9512029]

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