ABCC6 p.Arg166Cys

Predicted by SNAP2: A: D (71%), C: D (71%), D: D (71%), E: D (80%), F: D (71%), G: D (75%), H: N (78%), I: D (71%), K: D (66%), L: D (71%), M: D (63%), N: D (66%), P: D (80%), Q: D (66%), S: D (66%), T: D (66%), V: D (71%), W: D (80%), Y: D (59%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: N, I: D, K: N, L: D, M: D, N: D, P: D, Q: N, S: D, T: D, V: D, W: D, Y: D,

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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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