ABCA4 p.Phe608Leu

ClinVar: c.1823T>A , p.Phe608Tyr ? , not provided
c.1822T>C , p.Phe608Leu ? , not provided
Predicted by SNAP2: A: D (71%), C: N (53%), D: D (75%), E: D (63%), G: D (85%), H: D (59%), I: D (91%), K: D (66%), L: D (95%), M: N (61%), N: D (71%), P: D (80%), Q: D (59%), R: D (63%), S: D (66%), T: D (63%), V: D (59%), W: D (53%), Y: D (91%),
Predicted by PROVEAN: A: D, C: D, D: D, E: 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] Duno M, Schwartz M, Larsen PL, Rosenberg T
Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy.
Ophthalmic Genet. 2012 Dec;33(4):225-31. doi: 10.3109/13816810.2011.643441. Epub 2012 Jan 9., [PMID:22229821]

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

[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]