ABCMdb

PMID: 23469258

Wang Z, Yan A, Lin Y, Xie H, Zhou C, Lan F
Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree.
PLoS One. 2013;8(3):e57977. doi: 10.1371/journal.pone.0057977. Epub 2013 Mar 1., [PubMed]

Sentences

No. Mutations Sentence Comment

84 ABCD1 p.His283Arg The mutation was in exon 1 of the ABCD1 gene, at codon 283 (CACRCGC), which resulted in the replacement of histidine by arginine (p.His283Arg). Login to comment 111 ABCD1 p.His283Arg Discussion In the family presented here, a missense mutation (p.His283Arg) was identified, which has not been reported in X-ALD database or other published data, indicating that it is a novel mutation in the ABCD1 gene. Login to comment 115 ABCD1 p.His283Arg Third, the in silico analysis of pathogenicity was performed using three algorithms (PolyPhen, SIFT and PMut), and all three prediction results revealed that p.His283Arg was classified as pathogenic. Login to comment