ABCA4 p.Cys1502Arg

ClinVar: c.4506C>T , p.Cys1502= ? , not provided
c.4506C>A , p.Cys1502* ? , not provided
Predicted by SNAP2: A: N (53%), D: D (71%), E: D (59%), F: D (59%), G: D (71%), H: D (53%), I: N (53%), K: D (66%), L: D (53%), M: D (53%), N: D (63%), P: D (66%), Q: D (66%), R: D (66%), S: D (59%), T: D (53%), V: N (61%), W: D (75%), Y: D (66%),
Predicted by PROVEAN: A: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

[switch to compact view]
Comments [show]
Publications
[hide] Quazi F, Molday RS
Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.
J Biol Chem. 2013 Nov 29;288(48):34414-26. doi: 10.1074/jbc.M113.508812. Epub 2013 Oct 4., [PMID:24097981]

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