ABCD1 p.Pro543Leu

Predicted by SNAP2: A: D (80%), C: D (91%), D: D (95%), E: D (95%), F: D (95%), G: D (91%), H: D (91%), I: D (95%), K: D (95%), L: D (95%), M: D (91%), N: D (95%), Q: D (91%), R: D (95%), S: D (80%), T: D (91%), V: D (91%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, Cutting GR, Wanders RJ, Moser HW
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
Hum Mutat. 2001 Dec;18(6):499-515., [PMID:11748843]

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[hide] Coll MJ, Palau N, Camps C, Ruiz M, Pampols T, Giros M
X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.
Clin Genet. 2005 May;67(5):418-24., [PMID:15811009]

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[hide] Korenke GC, Roth C, Krasemann E, Hufner M, Hunneman DH, Hanefeld F
Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings.
Eur J Endocrinol. 1997 Jul;137(1):40-7., [PMID:9242200]

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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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[hide] Durmaz A, Atik T, Onay H, Canda EE, Ucar SK, Bademkiran F, Coker M, Cogulu O, Ozkinay F
Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation.
Metab Brain Dis. 2014 Sep;29(3):809-12. doi: 10.1007/s11011-014-9552-1. Epub 2014 May 1., [PMID:24788897]

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[hide] van Geel BM, Poll-The BT, Verrips A, Boelens JJ, Kemp S, Engelen M
Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study.
J Inherit Metab Dis. 2015 Mar;38(2):359-61. doi: 10.1007/s10545-014-9797-1. Epub 2014 Dec 9., [PMID:25488625]

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