ABCMdb

ABCD1 p.Ala294Val

Predicted by SNAP2:	C: D (91%), D: D (95%), E: D (95%), F: D (95%), G: D (91%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), Q: D (95%), R: D (95%), S: D (85%), T: D (91%), V: D (95%), W: D (95%), Y: D (95%),
Predicted by PROVEAN:	C: D, D: 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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Publications
[hide] Adrenomyeloneuropathy: report of a new mutation in... Can J Neurol Sci. 2005 May;32(2):261-3. Dionne A, Brunet D, McCampbell A, Dupre N
Adrenomyeloneuropathy: report of a new mutation in a French Canadian female.
Can J Neurol Sci. 2005 May;32(2):261-3., [PMID:16018167]

Abstract [show]
BACKGROUND: X-linked adrenoleukodystrophy is a peroxisomial disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy is the second most frequent phenotype (25-46%) of this disease and classically presents in adulthood with spastic paraparesis. Female heterozygotes can be symptomatic, but they are frequently misdiagnosed as having multiple sclerosis. CASE REPORT: We report a novel missense mutation in the ABCD1 gene in a 47-year-old French-Canadian female with spastic paraparesis and no confirmed family history of X-linked adrenoleukodystrophy. The mutation is located on exon 1 and causes the amino acid substitution of a valine for an alanine in a region of the protein highly conserved between mouse and man. CONCLUSION: Adrenomyeloneuropathy must be considered in the differential diagnosis of spastic paraparesis in men or women. This is an initial report of an ABCD1 gene mutation in the French-Canadian population, which should lead to the recognition of other cases in the future.

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Sentences [show]
No. Sentence Comment
55 This causes the substitution of a valine for an alanine at amino acid 294 (A294V) within a highly conserved region of the protein. Login to comment
70 The mutation reported causes the substitution of valine for alanine at amino acid 294(A294V) within a highly conserved region of the protein. Login to comment