ABCMdb

ABCD1 p.Gly343Ser

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Publications

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."

No. Sentence Comment

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). Login to comment
75 The new missense c.1027G>A (p.Gly343Ser) mutation was found in exon 2 in the proband of family It-5-FR but not in 200 control chromosomes. Login to comment
95 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. Login to comment