ABCD1 p.Gln567*
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PMID: 15811009
[PubMed]
Coll MJ et al: "X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females."
No.
Sentence
Comment
41
The novel mutations included 12 amino acid substitutions [R17H, V102E, R120P, N148Y, G277R (829G> C), L279P, A396T, M501L, K533E, D561V, R617L, and S656F], five stop codon (S108X, S358X, W524X, Q567X, and S572X), one acceptor splice site mutation (IVS1-3C > G), and nine frameshift mutations as a consequence of four deletions [FsS453 (1359delT), FsG473 (1420delA), FsA616 (1847delC), and Fs N390 (1171delTCCTGACAGC)], one insertion [FsW326 (979insT)], and three complex mutations [FsQ38 (115delTG CCTGGCCCCGGCCAGinsGCA, FsF252 (757 delCTCACGGCC insGAGG), and FsL504 (1515 delCACAGinsGCA)].
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ABCD1 p.Gln567* 15811009:41:194
status: NEW65 In relation to the 26 new mutations, all frameshifts caused by deletions (FsN390, FsS453, FsG473, and FsA616), complex mutations (FsQ38, FsF252, and FsL504), or nonsense mutations (S108X, S358X, W524X, Q567X, and S572X) result in truncation and negative expression of the ALDP mutant protein.
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ABCD1 p.Gln567* 15811009:65:202
status: NEW