IVS25-1G>C

 

IVS25-1G>C

Mutation Description

This mutation is a G to C transversion in the last base of intron 25.

Mutation Effect

This mutation results in the loss of exon 26 and a frameshift, causing the addition of 13 new amino acids after LYS1046, followed by premature termination of a predicted 1059 residue protein.

Sequence context

  • Genomic sequence
     intron25EXON26
ttttaatagGGTAGAAATTGGC > ttttaatacGGTAGAAATTGGC
  • cDNA and Amino-acid sequence 
    ThrLysLysGlyArgAsnTrp > ThrLysLysPheGluAsnCysIsoPheGlyHisGlnArgAlaLeuLeuTerACGAAAAAGGGTAGAAATTGG > ACGAAAAAGTTCGAAAACTGTATCTTCGGGCACCAAAGAGCATTGTTATAA   EXON25EXON26       >    EXON25EXON27

    Cell Line and Pedigree Information

    FJ, FUW, JO, HW, IU, KY, MCI, SK, ST, TO, ZM

    Comments

    The IVS25-1G>C mutation is responsible for approximately 50% of the known cases of WS.

    The effect of the IVS25-1G>C mutation is the same as that of IVS26+1G>C mutation.

    Reference


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