ABCA12 p.Arg287*
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PMID: 19664001
[PubMed]
Castiglia D et al: "Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis."
No.
Sentence
Comment
7
The diagnosis was confirmed by ABCA12 molecular analysis, which disclosed the novel homozygous mutation p.R287X.
X
ABCA12 p.Arg287* 19664001:7:106
status: NEW56 This nucleotide change produces a nonsense codon (i.e. p.R287X) which predicts the synthesis of a truncated nonfunctional protein.
X
ABCA12 p.Arg287* 19664001:56:57
status: NEW64 Direct sequencing of ABCA12 exon 7 demonstrates the presence of the c.859C>T (p.R287X) nonsense mutation (arrows) at the homozygous state in the proband (middle) and at the heterozygous state in the father (left), while the same variant is absent in the mother (right).
X
ABCA12 p.Arg287* 19664001:64:80
status: NEW