PMID: 9712540

Holzinger A, Maier E, Stockler-Ipsiroglu S, Braun A, Roscher AA
Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene.
Clin Genet. 1998 Jun;53(6):482-7., [PubMed]
Sentences
No. Mutations Sentence Comment
3 ABCD1 p.Gln672*
X
ABCD1 p.Gln672* 9712540:3:31
status: NEW
view ABCD1 p.Gln672* details
 This nonsense mutation (C2400T/Q672X) is the only mutation reported to date affecting exon 10. Login to comment 7 ABCD1 p.Gln672*
X
ABCD1 p.Gln672* 9712540:7:7
status: NEW
view ABCD1 p.Gln672* details
 If the Q672X mutation leads in fact to an unstable translation product this would be consistent with the hypothesis that the C-terminus is crucial for ALDP stability. Login to comment 71 ABCD1 p.Gln672*
X
ABCD1 p.Gln672* 9712540:71:59
status: NEW
view ABCD1 p.Gln672* details
 Discussion We have found a novel nonsense mutation (C2400T/Q672X) in exon 10 of the adrenoleukodystrophy gene that would result in a truncated protein lacking 72 amino acids at the C-terminus. Login to comment