ABCC6 p.Ala950Val

LOVD-ABCC6: p.Ala950Thr D
Predicted by SNAP2: C: D (80%), D: D (95%), E: D (95%), F: D (95%), G: D (91%), H: D (95%), I: D (66%), K: D (95%), L: D (91%), M: D (91%), N: D (95%), P: D (95%), Q: D (95%), R: D (95%), S: D (66%), T: D (71%), V: D (75%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: D, Y: N,

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[hide] Sato N, Nakayama T, Mizutani Y, Yuzawa M
Novel mutations of ABCC6 gene in Japanese patients with Angioid streaks.
Biochem Biophys Res Commun. 2009 Mar 13;380(3):548-53. Epub 2009 Jan 25., 2009-03-13 [PMID:19284998] [PubMed]

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