ABCD1 p.Gly510Asp
| Predicted by SNAP2: | A: D (80%), C: D (91%), D: D (95%), E: D (95%), F: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (91%), P: D (95%), Q: D (95%), R: D (95%), S: D (91%), 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, 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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[hide] ABCD1 gene mutations in Chinese patients with X-li... Pediatr Neurol. 2005 Aug;33(2):114-20. Pan H, Xiong H, Wu Y, Zhang YH, Bao XH, Jiang YW, Wu XR
ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy.
Pediatr Neurol. 2005 Aug;33(2):114-20., [PMID:16087056]
Abstract [show]
X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the adrenoleukodystrophy (ALD) protein gene ABCD1. This study used direct sequencing of genomic polymerase chain reaction products to perform mutational analysis of ABCD1 in 34 unrelated Chinese X-linked adrenoleukodystrophy patients and 27 of their maternal relatives. Thirty-two different mutations were identified in 34 patients. Most of the mutations (62.5%, 20/32) were missense mutations, six of which are novel. One novel single nucleotide polymorphism, c.1047 C>A, was also found in three patients and their mothers, which can also be observed in 1 of 120 normal control alleles. Two synonymous mutations (p.L516L and p.V349V) appeared in two unrelated patients, and no other mutations were evident after screening the gene's 10 exons. Seventeen of the probands' mothers were found to be heterozygous for the same mutations present in their sons' ABCD1 gene. Eight of the 10 screened sisters and cousins were identified as carriers. There were no hot spot mutations in the ABCD1 gene of Chinese patients with X-linked adrenoleukodystrophy. However, over half of the mutations (19/34) were located in exon 1 and exon 6, suggesting possible hot exons. No obvious relationship between genotype and phenotype was observed.
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No. Sentence Comment
62 The GϾA substitution at codon 510 (p.G510D), and the GϾT substitution at codon 343 (p.G343V), eliminated Bgl I and Ava I sites, respectively.
X
ABCD1 p.Gly510Asp 16087056:62:43
status: NEW63 However, the TϾA substitution at codon 605 (p. L605Q) generated a new BstX I restriction site.
X
ABCD1 p.Gly510Asp 16087056:63:43
status: NEW130 (a) c.1028 GϾT (p.G343V); (b) c.1529 CϾT (p.G510D, antisense strand); (c) c.1814 TϾA (p.L605Q); (d) c.385 insC (p.fs R128, antisense strand); (e) c.1603 delCC (p.fs P534); (f) c.240-241 ins9tcc, tgc,ggc (p.R80-L81insPAA).
X
ABCD1 p.Gly510Asp 16087056:130:56
status: NEW131 (a) c.1028 Gb0e;T (p.G343V); (b) c.1529 Cb0e;T (p.G510D, antisense strand); (c) c.1814 Tb0e;A (p.L605Q); (d) c.385 insC (p.fs R128, antisense strand); (e) c.1603 delCC (p.fs P534); (f) c.240-241 ins9tcc, tgc,ggc (p.R80-L81insPAA).
X
ABCD1 p.Gly510Asp 16087056:131:56
status: NEW