ABCC6 p.Ser1307Pro

LOVD-ABCC6: p.Ser1307Pro D
Predicted by SNAP2: A: D (66%), C: D (71%), D: D (85%), E: D (85%), F: D (80%), G: D (75%), H: D (85%), I: D (85%), K: D (91%), L: D (85%), M: D (85%), N: D (71%), P: D (91%), Q: D (80%), R: D (91%), T: N (78%), V: D (85%), W: D (91%), Y: D (85%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, T: N, 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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