IVS20+1G>T

Mutation Description

This mutation is a G to T transversion in the 1^st base of intron 20.

Mutation Effect

This mutation results in the loss of exon 20 and a frameshift, causing the addition of 2 new amino acids after SER758, followed by premature termination of a predicted 760 residue protein.

Sequence context

Genomic sequence

  EXON20intron20AAATTCAGgtatgaggat > AAATTCAGttatgaggat

cDNA and Amino-acid sequence

LysThrSerSerHisTrp > LysThrSerValSerTerAAAACAAGTTCCCACTGG > AAAACAAGTGTGTCATAG  EXON19EXON20     >   EXON19EXON21

Cell Line and Pedigree Information

WKH

Reference(s)
Yu, C. E., et al., Am. J. Hum. Genet.60:330-341, (1997).


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