ABCD4 p.Asp548Asn

Predicted by SNAP2: A: D (85%), C: D (85%), E: D (85%), F: D (95%), G: D (91%), H: D (91%), I: D (91%), K: D (95%), L: D (95%), M: D (91%), N: D (91%), P: D (95%), Q: D (91%), R: D (91%), S: D (85%), T: D (91%), V: D (91%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: D, C: 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, S: D, T: D, V: D, W: D, Y: D,

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[hide] Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nurnberg P, Thiele H, Robenek H, Hohne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR
Mutations in ABCD4 cause a new inborn error of vitamin B(12) metabolism.
Nat Genet. 2012 Oct;44(10):1152-5. doi: 10.1038/ng.2386. Epub 2012 Aug 26., [PMID:22922874]

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