ABCC7 p.Ala198Cys

ClinVar: c.592G>C , p.Ala198Pro ? , not provided
c.592G>A , p.Ala198Thr D , Likely pathogenic
CF databases: c.592G>A , p.Ala198Thr (CFTR1) ? ,
c.592G>C , p.Ala198Pro (CFTR1) ? , The mutation was detected in a Chinese CBAVD patient by multiplex heteroduplex analysis on the MDE gel matrix. The heterozygous patient had no other detectable CF mutations. Clinical: CBAVD
Predicted by SNAP2: C: D (63%), D: D (91%), E: D (91%), F: D (71%), G: D (71%), H: D (85%), I: D (63%), K: D (91%), L: N (57%), M: D (59%), N: D (80%), P: D (91%), Q: D (80%), R: D (91%), S: D (66%), T: D (53%), V: N (72%), W: D (91%), Y: D (75%),
Predicted by PROVEAN: C: N, D: D, E: D, F: N, G: N, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: N, T: N, V: N, 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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