IVS28+1G>T

 

IVS28+1G>T

Mutation Description

This mutation is a G to T transversion in the 1st base of intron 28.

Mutation Effect

This mutation results in the loss of exon 28 and a frameshift, causing the addition of 35 new amino acids after LYS1003, followed by premature termination of a predicted 1138 residue protein.

Sequence context

  • Genomic sequence
      EXON28intron28
AAAAAAAGgtttgtttta > AAAAAAAGttttgtttta
  • cDNA and Amino-Acid sequence
    GluLysLysSerAsnLeuGlu > GluLysLysTyrHisGlyThrVTRKSLQFLTACYFGTRAGDSDCVIWQIGRSTer
GAGAAGAAGTCTAACTTGGAG > GAGAAGAAGTATCATGGTACA...   EXON27EXON28       >    EXON27EXON29

    Cell Line and Pedigree Information

    KUN

    Reference


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