IVS29-7T>A

 

IVS29-7T>A

Mutation Description

This mutation is a T to A transversion in intron 29 seven bp 5' of exon 30.

Mutation Effect

This mutation results in the creation of a new splice site. This causes the insertion of 5 bp of intron 29 sequence between exon 29 and exon 30. The insertion and resulting frameshift, cause the addition of 9 new amino acids after GLN1153, followed by premature termination of a predicted 1162 residue protein.

The IVS29-7T>A mutant uses the same stop codon as the c.3677delA mutant.

Sequence context

  • Genomic sequence
    •   intron29EXON30 > intron29EXON30ttttgttcagATTGTGTT >  tttagTTCAGATTGTGTT
  • cDNA and Amino-acid sequence
    • GluThrGlnIsoValLeuTyr > GluThrGlnPheArgLeuCysTyrMetAlaAsnTrpTerGAGACTCAGATTGTGTTATAT > GAGACTCAGTTCAGATTGTGTTATATGGCAAATTGGTAG
    EXON29EXON30

    Cell Line and Pedigree Information

    Japanese Mutation 8

    Reference(s)


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