ABCMdb

ABCD1 p.Leu279Pro

None has been submitted yet.

Publications

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)]. Login to comment
67 With respect to the 12 missense mutations (R17H, V102E, R120P, N148Y, G277R, L279P, A396T, M501L, K533E, D561V, R617L, and S656F), only in four cases (L279P, K533E, R554H, and S656F mutations), three of which (K533E, R554H, and S656F) affect adenosine triphosphate-binding domain or boundaries, could negative ALDP protein expression be established. Login to comment