Mutation Details for c.1367T>C
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cDNA Name
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c.1367T>C
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Protein Name
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p.Val456Ala
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Exon or Intron
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exon 10
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Legacy Exon or Intron
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exon 9
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V456A
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Other Details
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This mutation creates a BbvI restriction site. The amino acid substitution appears not drastic. Besides, the residue 456 is not conserved among species. It is thus likely that this variation is
rather a polymorphim than a mutation.
It was found in a CBAVD patient heterozygous for -895T/G. No other mutation has been detected after complete analysis of the coding sequence by DGGE analysis, and screening for 3849+10kbC>T.
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Contributors
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Girodon E,
Cazeneuve C,
Sternberg D,
Costes B,
Goossens M
1999-11-23
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Institute
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Service de Biochimie-Genetique
Hopital Henri-Mondor,
France
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Submitted Phenotype Details
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V456A was found in a male patient also carrying 1342-6(5T) on the other allele. He is PS and was diagnosed with CBAVD. (pers. corr. Girodon)
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Reference
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Girodon et al. 1999
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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