ABCC6 p.Val787Ile

LOVD-ABCC6: p.Val787Ile D
Predicted by SNAP2: A: D (53%), C: N (61%), D: D (80%), E: D (75%), F: D (71%), G: D (75%), H: D (75%), I: N (61%), K: D (85%), L: D (59%), M: D (63%), N: D (71%), P: D (80%), Q: D (71%), R: D (80%), S: D (63%), T: N (61%), W: D (80%), Y: D (75%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, W: D, Y: D,

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[hide] Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
J Med Genet. 2007 Oct;44(10):621-8. Epub 2007 Jul 6., [PMID:17617515]

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