IVS30+2T>A

Mutation Description

This mutation is a T to A transversion in the 2^nd base of intron 30.

Mutation Effect

This mutation results in the loss of exon 30 and a frameshift, causing the addition of 4 new amino acids after GLN1153, followed by premature termination of a predicted 1157 residue protein.

Sequence context

  EXON30intron30AAAATGAGgtaaaactatc > AAAATGAGgaaaaactatc

GluThrGlnIsoValLeu > GluThrGlnThrAsnTyrGlyTerGAGACTCAGATTGTGTTA > GAGACTCAGACCAACTACGGTTGA   EXON29EXON30   >     EXON29EXON31

Cell Line and Pedigree Information

AUS

Reference(s)

• Oshima, J., et al., Hum. Mol. Genet. 5:1909-1913, (1996).
• Meisslitzer, C., et al., Eur. J. Hum. Genet.5:364-370, (1997).

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