ABCC6 p.Val415Ala

LOVD-ABCC6: p.Val415Ala D
Predicted by SNAP2: A: N (82%), C: N (78%), D: D (71%), E: D (59%), F: D (63%), G: D (63%), H: D (71%), I: N (66%), K: D (71%), L: D (59%), M: D (59%), N: N (53%), P: D (75%), Q: D (63%), R: D (75%), S: N (53%), T: N (61%), W: D (75%), Y: D (59%),
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] Schulz V, Hendig D, Henjakovic M, Szliska C, Kleesiek K, Gotting C
Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE).
Hum Mutat. 2006 Aug;27(8):831., [PMID:16835894]

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