ABCC7 p.Gln493Ala

ClinVar: c.1478A>C , p.Gln493Pro ? , not provided
c.1478A>G , p.Gln493Arg ? , not provided
c.1477C>T , p.Gln493* D , Pathogenic
CF databases: c.1477C>T , p.Gln493* D , CF-causing
c.1478A>C , p.Gln493Pro (CFTR1) D ,
c.1478A>G , p.Gln493Arg (CFTR1) ? , This mutation was identified by DGGE and direct sequencing which was found in a Bulgarian CF chromosome.
Predicted by SNAP2: A: D (85%), C: D (85%), D: D (91%), E: D (85%), F: D (91%), G: D (91%), H: D (85%), I: D (91%), K: D (91%), L: D (91%), M: D (85%), N: D (85%), P: D (95%), R: D (91%), S: D (85%), T: D (85%), V: D (85%), W: D (91%), Y: D (91%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Frelet A, Klein M
Insight in eukaryotic ABC transporter function by mutation analysis.
FEBS Lett. 2006 Feb 13;580(4):1064-84. Epub 2006 Jan 19., 2006-02-13 [PMID:16442101]

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[hide] Berger AL, Ikuma M, Hunt JF, Thomas PJ, Welsh MJ
Mutations that change the position of the putative gamma-phosphate linker in the nucleotide binding domains of CFTR alter channel gating.
J Biol Chem. 2002 Jan 18;277(3):2125-31., 2002-01-18 [PMID:11788611]

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