ABCMdb

ABCD1 p.Leu322Pro

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Publications

PMID: 9584268 [PubMed] Osaka H et al: "A novel mutation found in an adrenoleukodystrophy patient who underwent bone marrow transplantation."

No. Sentence Comment

33 We conÐrmed the absence of this L322P mutation in 75 unrelated Japanese individuals by restriction analysis. Login to comment
57 The L322P mutation, residing in a hydrophobic region, also a†ects the amino acid common to ALD protein and 70K PMP. Login to comment
58 We could not Ðnd this L322P mutation in Japanese normal controls; it is likely to be a mutation that causes ALD. Login to comment

PMID: 15800013 [PubMed] Asheuer M et al: "Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy."

No. Sentence Comment

76 Mutation Amino acid alteration Type of mutation at the protein level Tissue sample CCER1 521A.G Y174C Missense CCER2 1414insC fsE471 Frame shift CCER3 Unknown Unknown Unknown Fibroblast CCER4 411G.A W137X Nonsense CCER5 1961T.C L654P Missense CCER6 529C.T Q177X Nonsense CCER7 901-1G.A fsE300 Frame shift CCER8 796G.A G266R Missense CCER9 1822G.A G608S Missense Brain CCER10 1390C.A R464X Nonsense CCER11 253-254insC fsP84 Frame shift CCER12 619_627del S207_A209del Deletion AMN-C1 1414-1415insC fsE471 Frame shift AMN-C2 1661G.A R554H Missense AMN-C3 1585delG fsG528 Frame shift Fibroblast AMN-C4 1661G.A R554H Missense AMN-C5 1825G.A E609K Missense AMN-C6 919C.T Q307X Nonsense AMN-C7 1850G.A R617H Missense AMN-C8 887A.G Y296C Missense AMN-C9 965T.C L322P Missense Brain AMN-C10 1390C.T R464X Nonsense AMN-C11 [1165C.T;1224 þ 1GT.TG] [R389C;fSE408] Missense; frame shift AMN-C12 1661G.A R554H Missense AMN-C13 [1997A.C;2007C.G] [Y666S;H669Q] Missense AMN-C14 1755delG fsH586 Frame shift AMN1 529C.T Q177X Nonsense AMN2 1999C.G H667D Missense AMN3 1415delAG fsE471 Frame shift Fibroblast AMN4 337delC fsA112 Frame shift AMN5 310C.T R104C Missense AMN6 919C.T Q307X Nonsense AMN7 323C.T S108L Missense Brain All mutation designations conform to the nomenclature described by Antonarakis and den Dunnen (30,31). Login to comment

PMID: 23835273 [PubMed] Hung KL et al: "Mutational analyses on X-linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the ABCD1 gene."

No. Sentence Comment

5 In addition, three previously described missense mutations (c.965T>C, c.1978C>T, and c.2006A>G), leading to aberrant ABCD1 of p.Leu322Pro, p.Arg660Trp, and p.His669Arg, were also identified in Malaysian probands. Login to comment
56 Mutational analysis on genomic DNA revealed a T-to-C transition mutation (c.965T>C) at exon 2 of the ABCD1 gene, leading to the substitution of a leucine at position 322 to a proline (p.Leu322Pro) in ABCD1 (Fig 2).19,20 This transition mutation created a BspEI restriction site (50-T/CCGGA-30) from the original 50-TCTGGA-30 sequence, which can be useful for rapid screening of the mutant allele. Login to comment
98 Three missense mutations (c.965T>C, c.1978C>T, and c.2006A>G), leading to aberrant ABCD1 of p.Leu322Pro, p.Arg660Trp, and p.His669Arg, were also identified in Malaysian probands with X-ALD of the childhood cerebral form, adolescent cerebral phenotype, and adrenomyeloneuropathy with cerebral involvement, respectively. Login to comment
113 In addition, three missense mutations (c.965T>C, c.1978C>T, and c.2006A>G), leading to aberrant ABCD1 of p.Leu322Pro, p.Arg660Trp, and p.His669Arg, were also identified in Malaysian X-ALD kindred. A polymorphism in intron 9 (c.1992-32c/t; refSNP: rs4898368) of the ABCD1 gene was also commonly observed in both Taiwanese and Malaysian populations. Login to comment