ABCC6 p.Lys502Met

LOVD-ABCC6: p.Lys502Met D
Predicted by SNAP2: A: D (80%), C: D (80%), D: D (95%), E: D (91%), F: D (91%), G: D (91%), H: D (80%), I: D (85%), L: D (85%), M: D (80%), N: D (91%), P: D (91%), Q: D (80%), R: D (75%), S: D (85%), T: D (85%), V: D (85%), W: D (85%), Y: D (85%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: 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] Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.
J Med Genet. 2005 Dec;42(12):881-92. Epub 2005 May 13., [PMID:15894595]

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