ABCD1 p.Arg591Trp

ClinVar: c.1771C>T , p.Arg591Trp D , Pathogenic
Predicted by SNAP2: A: D (91%), C: D (95%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (95%), K: D (91%), L: D (91%), M: D (91%), N: D (95%), P: D (95%), Q: D (95%), S: D (95%), T: D (95%), V: D (95%), 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: N, L: D, M: D, N: D, P: D, Q: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Takano H, Koike R, Onodera O, Sasaki R, Tsuji S
Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy.
Arch Neurol. 1999 Mar;56(3):295-300., [PMID:10190819]

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[hide] Guimaraes CP, Lemos M, Sa-Miranda C, Azevedo JE
Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene.
Mol Genet Metab. 2002 May;76(1):62-7., [PMID:12175782]

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[hide] Kumar N, Taneja KK, Kalra V, Behari M, Aneja S, Bansal SK
Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India.
PLoS One. 2011;6(9):e25094. Epub 2011 Sep 22., [PMID:21966424]

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[hide] Bargiela D, Eglon G, Horvath R, Chinnery PF
An under-recognised cause of spastic paraparesis in middle-aged women.
Pract Neurol. 2014 Jun;14(3):182-4. doi: 10.1136/practneurol-2013-000662. Epub 2013 Oct 23., [PMID:24154795]

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