ABCD1 p.Gln556Arg
| Predicted by SNAP2: | A: D (91%), C: D (91%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (91%), P: D (95%), R: D (95%), S: D (95%), 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, P: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] A novel ABCD1 gene mutation in a Chinese-Taiwanese... Pediatr Neurol. 2007 May;36(5):348-50. Liu YT, Lin KH, Soong BW, Liao KK, Lin KP
A novel ABCD1 gene mutation in a Chinese-Taiwanese patient with adrenomyeloneuropathy.
Pediatr Neurol. 2007 May;36(5):348-50., [PMID:17509471]
Abstract [show]
The ABCD1 gene mutation (previously ALD) has been reported in China, but not previously in Taiwan. This case report describes one Taiwanese patient whose clinical manifestations were compatible with adrenomyeloneuropathy. Direct sequencing for the ABCD1 gene of this patient and his mother detected a novel missense mutation, K513Q, in exon 6, the first such detected in a Taiwanese patient. Previous studies have suggested exon 6 as a possible hot segment of ABCD1 gene mutations in Chinese populations; however, most of the mutations in exon 6 presented as childhood cerebral adrenoleukodystrophy. K513Q is also the first novel mutation located within exon 6 and presenting with adult-onset adrenomyeloneuropathy in Chinese-Taiwanese.
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No. Sentence Comment
70 Only 1 of the 40 patients presented with adrenomyeloneuropathy; this patient had one missense mutation in exon 7 (Q556R) [4].
X
ABCD1 p.Gln556Arg 17509471:70:114
status: NEW68 Only 1 of the 40 patients presented with adrenomyeloneuropathy; this patient had one missense mutation in exon 7 (Q556R) [4].
X
ABCD1 p.Gln556Arg 17509471:68:114
status: NEW