ABCC6 p.Gly1133Cys

LOVD-ABCC6: p.Gly1133Ala D
Predicted by SNAP2: A: D (95%), C: D (95%), D: D (95%), E: D (95%), F: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), Q: D (95%), R: D (95%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: 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,

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[hide] Drera B, Brezzi A, Zoppi N, Venturini M, Barlati S, Pinton PG, Colombi M
Compound heterozygosity for a novel and a recurrent ABCC6 gene mutation in an Italian family with Pseudoxanthoma elasticum.
J Dermatol Sci. 2008 Mar;49(3):252-5. Epub 2007 Oct 29., [PMID:18029147]

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