ABCMdb

PMID: 16996397

Chiu HC, Liang JS, Wang JS, Lu JF
Mutational analyses of Taiwanese kindred with X-linked adrenoleukodystrophy.
Pediatr Neurol. 2006 Oct;35(4):250-6., [PubMed]

Sentences

No. Mutations Sentence Comment

67 ABCD1 p.Gly507Asp ABCD1 p.Gly507Asp A point mutation (1520 Gb0e;A) was also identified in exon 6 of the ABCD1 gene from the ALD-2 patient`s skin fibroblasts leading to conversion of a glycine at position 507 to an aspartic acid (G507D) of the adrenoleukodystrophy protein (Fig 1). Login to comment 68 ABCD1 p.Gly507Asp ABCD1 p.Gly507Asp A point mutation (1520 GϾA) was also identified in exon 6 of the ABCD1 gene from the ALD-2 patient`s skin fibroblasts leading to conversion of a glycine at position 507 to an aspartic acid (G507D) of the adrenoleukodystrophy protein (Fig 1). Login to comment 76 ABCD1 p.Leu585Pro ABCD1 p.Leu585Pro This transition mutation resulted in the conversion of a leucine at position 585 to a proline (L585P) of the adrenoleukodystrophy protein. Login to comment 77 ABCD1 p.Leu585Pro ABCD1 p.Leu585Pro ABCD1 p.Leu391Pro ABCD1 p.Leu391Pro This transition mutation resulted in the conversion of a leucine at position 585 to a proline (L585P) of the adrenoleukodystrophy protein. Login to comment 78 ABCD1 p.Leu391Pro ABCD1 p.Leu391Pro In the ALD-5 family, a missense mutation involving replacement of a leucine by a proline at position 391 (L391P) resulting from a nucleotide transition (1172 TϾC) in exon 3 of the ABCD1 gene was observed in the proband, the mother (Fig 2), and a sister (data not shown). Login to comment 104 ABCD1 p.Gly507Asp ABCD1 p.Leu585Pro ABCD1 p.Leu391Pro Three missense mutations, of L391P, G507D, and L585P, are respectively localized to exons 3, 6, and 7 of the ABCD1 gene. Login to comment 106 ABCD1 p.Gly507Asp ABCD1 p.Leu585Pro ABCD1 p.Leu391Pro Three missense mutations, of L391P, G507D, and L585P, are respectively localized to exons 3, 6, and 7 of the ABCD1 gene. Login to comment 124 ABCD1 p.Tyr296Cys ABCD1 p.Arg518Gln ABCD1 p.Ser606Leu ABCD3 p.Gly226Arg However, common missense mutations, including G226R, Y296C, R518Q, and S606L [13,33,35], have been observed between Chinese and Japanese (though as yet not identified in Taiwanese) X-linked adrenoleukodystrophy patients, indicating the possibility of inheritance from common ancestors. Login to comment 125 ABCD1 p.Arg518Gln The only common mutation (R518Q) in exon 6 of the ABCD1 gene accounts for 25% (5 of 20) of all exon 6 mutations in Japanese and Chinese X-linked adrenoleukodystrophy families. Login to comment 126 ABCD1 p.Tyr296Cys ABCD1 p.Arg518Gln ABCD1 p.Ser606Leu ABCD3 p.Gly226Arg However, common missense mutations, including G226R, Y296C, R518Q, and S606L [13,33,35], have been observed between Chinese and Japanese (though as yet not identified in Taiwanese) X-linked adrenoleukodystrophy patients, indicating the possibility of inheritance from common ancestors. Login to comment 127 ABCD1 p.Arg518Gln The only common mutation (R518Q) in exon 6 of the ABCD1 gene accounts for 25% (5 of 20) of all exon 6 mutations in Japanese and Chinese X-linked adrenoleukodystrophy families. Login to comment