ABCD1 p.Ala95Asp
| Predicted by SNAP2: | C: N (93%), D: D (53%), E: N (53%), F: N (87%), G: N (93%), H: N (66%), I: N (93%), K: N (53%), L: N (87%), M: N (82%), N: N (66%), P: D (53%), Q: N (66%), R: N (53%), S: N (93%), T: N (87%), V: N (93%), W: D (59%), Y: N (82%), |
| Predicted by PROVEAN: | C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: D, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N, |
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[hide] A novel mutation in the ABCD1 gene of a Moroccan p... BMC Neurol. 2015 Nov 25;15(1):244. doi: 10.1186/s12883-015-0503-1. Karkar A, Barakat A, Bakhchane A, Fettah H, Slassi I, Dorboz I, Boespflug-Tanguy O, Nadifi S
A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report.
BMC Neurol. 2015 Nov 25;15(1):244. doi: 10.1186/s12883-015-0503-1., [PMID:26607867]
Abstract [show]
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD; OMIM: 300100) is the most common peroxisomal disease caused by mutations in the ATP-binding cassette, sub-family D member 1 gene or ABCD1 (geneID: 215), the coding gene for the adrenoleukodystrophy protein (ALDP), which is an ATP-binding transport protein associated to an active transport of very long chain fatty acids (VLCFAs). Dysfunction of ALDP induces an accumulation of VLCFAs in all tissues leading to a neurodegenerative disorder that involves the nervous system white matter. CASE PRESENTATION: In our case report, magnetic resonance imaging (MRI) as well as the high levels of VLCFAs prompted the diagnosis the X-ALD. Molecular analysis of ABCD1 gene have shown a pathogenic homozygous nonsense mutation (c.1677C > G; p.(Tyr559*)) in exon 7. CONCLUSION: Thus, we identified here a novel mutation in the ABCD1 gene in a Moroccan patient causing X-linked adrenoleukodystrophy.
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No. Sentence Comment
46 In the North African population, only two other mutations (c.284C > A; p.(Ala95Asp)) and (c.1780 + 2 T > G) of ABCD1 gene were described in Tunisian patients [11, 12] .
X
ABCD1 p.Ala95Asp 26607867:46:74
status: NEW