ABCC7 p.Pro205Cys

ClinVar: c.614C>G , p.Pro205Arg ? , not provided
c.613C>T , p.Pro205Ser D , Pathogenic
CF databases: c.613C>T , p.Pro205Ser D , CF-causing ; CFTR1: This mutation was detected by SSCP analysism followed by direct sequencing. Mutation P205S was found in 3/270 unrelated Spanish CF non-[delta]F508 chromosomes. P205S is associated with haplotype 16/44/13.
c.614C>G , p.Pro205Arg (CFTR1) D ,
c.614C>T , p.Pro205Leu (CFTR1) ? ,
Predicted by SNAP2: A: D (95%), C: D (95%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (95%), Q: D (95%), R: D (95%), S: N (53%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%),
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, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Akabas MH
Channel-lining residues in the M3 membrane-spanning segment of the cystic fibrosis transmembrane conductance regulator.
Biochemistry. 1998 Sep 1;37(35):12233-40., 1998-09-01 [PMID:9724537]

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