ABCD1 p.Lys513Gln
| Predicted by SNAP2: | A: D (95%), C: D (95%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (91%), I: D (95%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), Q: D (95%), R: D (91%), S: D (91%), 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, 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] 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
2 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.
X
ABCD1 p.Lys513Gln 17509471:2:104
status: NEW4 K513Q is also the first novel mutation located within exon 6 and presenting with adult-onset adrenomyeloneuropathy in Chinese-Taiwanese.
X
ABCD1 p.Lys513Gln 17509471:4:0
status: NEW22 This patient had positive family history and a novel point mutation in exon 6 of the ABCD1 gene (K513Q).
X
ABCD1 p.Lys513Gln 17509471:22:97
status: NEW39 Sequencing of the ABCD1 gene revealed a novel point mutation, K513Q, in exon 6.
X
ABCD1 p.Lys513Gln 17509471:39:62
status: NEW49 Results For the present patient, DNA sequencing of the complete coding region of the ABCD1 gene yielded a missense mutation (K513Q) caused by cDNA nucleotide change 1923AϾC in exon 6.
X
ABCD1 p.Lys513Gln 17509471:49:125
status: NEW57 The present patient manifested a novel and unique missense mutation (K513Q) in exon 6, within the ATP-binding domain.
X
ABCD1 p.Lys513Gln 17509471:57:69
status: NEW66 Mutation A1923C/Lys513Gln is shown in the central part of the top and bottom sequences.
X
ABCD1 p.Lys513Gln 17509471:66:16
status: NEW76 A novel missense mutation (K513Q) was identified in two members of one Taiwanese family, the first such private disease-causing mutation that we know of in a Taiwanese population.
X
ABCD1 p.Lys513Gln 17509471:76:27
status: NEW21 This patient had positive family history and a novel point mutation in exon 6 of the ABCD1 gene (K513Q).
X
ABCD1 p.Lys513Gln 17509471:21:97
status: NEW37 Sequencing of the ABCD1 gene revealed a novel point mutation, K513Q, in exon 6.
X
ABCD1 p.Lys513Gln 17509471:37:62
status: NEW47 Results For the present patient, DNA sequencing of the complete coding region of the ABCD1 gene yielded a missense mutation (K513Q) caused by cDNA nucleotide change 1923Ab0e;C in exon 6.
X
ABCD1 p.Lys513Gln 17509471:47:125
status: NEW55 The present patient manifested a novel and unique missense mutation (K513Q) in exon 6, within the ATP-binding domain.
X
ABCD1 p.Lys513Gln 17509471:55:69
status: NEW64 Mutation A1923C/Lys513Gln is shown in the central part of the top and bottom sequences.
X
ABCD1 p.Lys513Gln 17509471:64:16
status: NEW74 A novel missense mutation (K513Q) was identified in two members of one Taiwanese family, the first such private disease-causing mutation that we know of in a Taiwanese population.
X
ABCD1 p.Lys513Gln 17509471:74:27
status: NEW