ABCC7 p.Ser1426Ala

ClinVar: c.4276T>C , p.Ser1426Pro ? , not provided
CF databases: c.4276T>C , p.Ser1426Pro (CFTR1) ? , This mutation was found in a patient with CBAVD.
c.4277C>T , p.Ser1426Phe (CFTR1) ? , This change has been detected by SSCP/HD analysis and direct sequencing. The mutation destroys a HinfI restriction site.
Predicted by SNAP2: A: N (72%), C: N (57%), D: N (61%), E: N (87%), F: D (75%), G: N (72%), H: N (87%), I: N (57%), K: N (78%), L: N (53%), M: D (59%), N: N (93%), P: N (61%), Q: N (82%), R: N (66%), T: N (93%), V: N (66%), W: D (80%), Y: D (71%),
Predicted by PROVEAN: A: N, C: D, D: N, E: N, F: D, G: D, H: D, I: D, K: N, L: D, M: D, N: N, P: D, Q: N, R: D, T: N, V: D, W: D, Y: D,

[switch to compact view]
Comments [show]
Publications
[hide] Hallows KR, Raghuram V, Kemp BE, Witters LA, Foskett JK
Inhibition of cystic fibrosis transmembrane conductance regulator by novel interaction with the metabolic sensor AMP-activated protein kinase.
J Clin Invest. 2000 Jun;105(12):1711-21., [PMID:10862786]

Abstract [show]
Comments [show]
Sentences [show]