ABCD1 p.Arg120Pro
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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."
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Sentence
Comment
8
Intra-familiar phenotype variability was observed in most of the families, but in one, with the novel mutation R120P, only the adult mild phenotype was present (five hemizygous family members).
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ABCD1 p.Arg120Pro 15811009:8:111
status: NEW41 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.Arg120Pro 15811009:41:71
status: NEW67 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.
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ABCD1 p.Arg120Pro 15811009:67:56
status: NEW70 In the case of mutation R120P, cosegregation in other family members was established (four hemizygous and five heterozygous members previously diagnosed by increased levels of C26 in serum and/or fibroblasts).
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ABCD1 p.Arg120Pro 15811009:70:24
status: NEW