c.733-734delAA

 

c.733-734delAA

Mutation Description

This mutation consists of the deletion of AA from the sequence c.730-734AAAAA in exon 5.

Mutation Effect

This mutation results in a frameshift, causing the addition of 9 new amino acids after Lys167 followed by premature termination and a predicted 176 residue protein.

Sequence context

AlaAsnLysLysLeuLysCys > AlaAsnLysAlaGluMetTyrArgAspLeuGluProTerGCCAATAAAAAGCTGAAATGT > GCCAATAAAGCTGAAATGTACAGAGACCTGGAGCCTTAA

Cell line and pedigree information

Japanese mutation 10

Reference

  • Matsumoto, T., et al. Hum. Genet. 100:123-130 (1997)

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