ABCD1 p.Cys88Trp
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PMID: 15643618
[PubMed]
Montagna G et al: "Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy."
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4
We identified eleven hemizygous base changes in ABCD1, including seven new mutations (c.145_146ins4, c.264C>G, c.919C>T, c.994C>T, c.1027G>A, c.1508T>C, and c.1540A>C, resulting in the p.Pro193fs, p.Cys88Trp, p.Gln307X, p.Gln332X, p.Gly343Ser, p.Leu503Pro, and p.Ser514Arg changes, respectively).
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ABCD1 p.Cys88Trp 15643618:4:199
status: NEW66 The novel c.264C>G (p.Cys88Trp) mutation was identified in the proband of family It-1-ME.
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ABCD1 p.Cys88Trp 15643618:66:22
status: NEW72 Lanes 3, 4, and 6 indicate patients harbouring the p.Cys88Trp, p.Gln332X , and the p.Pro49fs mutations, respectively.
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ABCD1 p.Cys88Trp 15643618:72:53
status: NEW95 Summary of Mutations in ABCD1 (RefSeq: NM_000033.2) Identified in this Study ABCD1 gene cDNA level Protein level Exon 1 c.145_146ins4 p.Pro49fs Exon 1 c.264C>G p.Cys88Trp Exon 1 c. 454C>T p.Arg152Cys Exon 1 c.542A>G p.Tyr181Cys Exon 2 c.919C>T p.Gln307X Exon 2 c.994C>T p.Gln332X Exon 2 c.1027G>A p.Gly343Ser Exon 5 c.1415_1416del2 p.Glu471fs Exon 6 c.1508T>C p.Leu503Pro Exon 6 c.1540A>C p.Ser514Arg Exon 7 c.1661G>A p.Arg554His Novel variants are in bold.
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ABCD1 p.Cys88Trp 15643618:95:162
status: NEW