ABCD1 p.Gly507Asp
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 16996397
[PubMed]
Chiu HC et al: "Mutational analyses of Taiwanese kindred with X-linked adrenoleukodystrophy."
No.
Sentence
Comment
68
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).
X
ABCD1 p.Gly507Asp 16996397:68:151
status: NEWX
ABCD1 p.Gly507Asp 16996397:68:196
status: NEW106 Three missense mutations, of L391P, G507D, and L585P, are respectively localized to exons 3, 6, and 7 of the ABCD1 gene.
X
ABCD1 p.Gly507Asp 16996397:106:36
status: NEW67 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).
X
ABCD1 p.Gly507Asp 16996397:67:151
status: NEWX
ABCD1 p.Gly507Asp 16996397:67:196
status: NEW104 Three missense mutations, of L391P, G507D, and L585P, are respectively localized to exons 3, 6, and 7 of the ABCD1 gene.
X
ABCD1 p.Gly507Asp 16996397:104:36
status: NEW