ABCC7 p.Gly85Ala

ClinVar: c.254G>A , p.Gly85Glu D , Pathogenic
c.254G>T , p.Gly85Val ? , not provided
CF databases: c.254G>A , p.Gly85Glu D , CF-causing ; CFTR1: This mutation was detected in family #26, a French Canadian family classified as PI. This Gly to Glu change is associated with a group IIb haplotype. The mutation destroys a Hinfl site. The PCR product derived from the 3i-5 and 3i-3 primers is cleaved by this enzyme into 3 fragments, 172, 105, and 32 bp, respectively, for the normal sequence; a fragment of 277 bp would be present for the mutant sequence. They analyzed 54 CF chromosomes, 8 from group II and 50 normal chromosomes, 44 from group II and did not find another eample of G85E.
c.254G>T , p.Gly85Val (CFTR1) ? , The patient with G85V carried G542X on the other chromosome, and presented mild phenotype with PI.
Predicted by SNAP2: A: D (95%), C: D (95%), D: D (95%), E: D (59%), F: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), Q: D (95%), R: D (95%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: N, C: D, D: D, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: N, T: D, V: D, W: D, Y: D,

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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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