ABCD1 p.Met1Val

Predicted by SNAP2: A: N (53%), C: N (72%), D: D (66%), E: D (63%), F: N (87%), G: D (63%), H: N (53%), I: N (97%), K: D (59%), L: N (97%), N: D (53%), P: D (63%), Q: N (57%), R: D (59%), S: N (53%), T: N (57%), V: N (93%), W: D (53%), Y: N (61%),
Predicted by PROVEAN: A: N, C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: D, Y: N,

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[hide] Engelen M, van der Kooi AJ, Kemp S, Wanders RJ, Sistermans EA, Waterham HR, Koelman JT, van Geel BM, de Visser M
X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy.
J Peripher Nerv Syst. 2011 Dec;16(4):353-5. doi: 10.1111/j.1529-8027.2011.00367.x., [PMID:22176151]

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[hide] Engelen M, Barbier M, Dijkstra IM, Schur R, de Bie RM, Verhamme C, Dijkgraaf MG, Aubourg PA, Wanders RJ, van Geel BM, de Visser M, Poll-The BT, Kemp S
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
Brain. 2014 Mar;137(Pt 3):693-706. doi: 10.1093/brain/awt361. Epub 2014 Jan 29., [PMID:24480483]

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