ABCC6 p.His475Leu

Predicted by SNAP2: A: N (78%), C: N (57%), D: N (72%), E: N (78%), F: N (57%), G: N (72%), I: N (66%), K: N (93%), L: N (66%), M: N (78%), N: N (87%), P: N (53%), Q: N (87%), R: N (82%), S: N (87%), T: N (82%), V: N (78%), W: D (71%), Y: N (61%),
Predicted by PROVEAN: A: N, C: D, D: N, E: N, F: N, G: N, I: D, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: D, Y: N,

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[hide] Martin L, Maitre F, Bonicel P, Daudon P, Verny C, Bonneau D, Le Saux O, Chassaing N
Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE.
Arch Dermatol. 2008 Mar;144(3):301-6., [PMID:18347285]

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