ABCMdb

ABCD1 p.Ser514Arg

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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
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
101 However, the p.Ser514Arg mutation was found in two families who denied formal consanguinity. Login to comment

PMID: 23768953 [PubMed] Petrillo S et al: "Glutathione imbalance in patients with X-linked adrenoleukodystrophy."

No. Sentence Comment

74 Subject Age (years) Phenotype Mutation HAAM 4 CCALD c.1415_1416delAG (p.Q472RfsX83) AM 24 CCALD c.919C>T (p.Q307X) SM 16 CCALD c.1888G>A (p.E630K) ON 11 CCALD c.1628C>T (p.P543L) MG 62 AMN c.2006A>G (p.H669R) AG 33 AMN c.427C>T (p.P143S) BM 64 AMN c.1382delT (p.L461RfsX97) PF 54 AMN c.1252C>T (p.R418W) RN 61 AMN c.1415_1416delAG (p.Q472RfsX83) ME 20 AMN c.442_444 del 3(AAC)/ins6 (TGTTGA) (p.N148CfsX1) SF 40 AMN c.442_444 del 3(AAC)/ins6 (TGTTGA) (p.N148CfsX1) LM 54 AMN c.1540A>C (p.S514R) LF 43 AMN c.1415_1416delAG (p.Q472RfsX83) LM 40 AMN c.1415_1416delAG (p.Q472RfsX83) 2.5. Login to comment