ABCD1 p.His669Arg

Predicted by SNAP2: A: N (57%), C: N (57%), D: D (59%), E: N (53%), F: N (61%), G: N (53%), I: N (53%), K: N (57%), L: N (78%), M: N (72%), N: N (61%), P: D (71%), Q: N (72%), R: N (66%), S: N (61%), T: N (57%), V: N (57%), W: N (66%), Y: N (87%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: 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] Amorosi CA, Myskova H, Monti MR, Argarana CE, Morita M, Kemp S, Dodelson de Kremer R, Dvorakova L, Oller de Ramirez AM
X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients.
PLoS One. 2012;7(12):e52635. doi: 10.1371/journal.pone.0052635. Epub 2012 Dec 31., [PMID:23300730]

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[hide] Petrillo S, Piemonte F, Pastore A, Tozzi G, Aiello C, Pujol A, Cappa M, Bertini E
Glutathione imbalance in patients with X-linked adrenoleukodystrophy.
Mol Genet Metab. 2013 Aug;109(4):366-70. doi: 10.1016/j.ymgme.2013.05.009. Epub 2013 May 22., [PMID:23768953]

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[hide] Hung KL, Wang JS, Keng WT, Chen HJ, Liang JS, Ngu LH, Lu JF
Mutational analyses on X-linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the ABCD1 gene.
Pediatr Neurol. 2013 Sep;49(3):185-90. doi: 10.1016/j.pediatrneurol.2013.04.021. Epub 2013 Jul 5., [PMID:23835273]

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