c.1396delA

Mutation Description

This mutation consists of the deletion of A from the sequence c.1394-1396AAA in exon 9.

Mutation Effect

This mutation results in a frameshift, causing the addition of 3 new amino acids after GLU388, followed by premature termination of a predicted 391 residue protein.

Sequence context

LysGluAsnMetGluArgAlaCysLeu >  LysGluAsnMetGluGluLeuValTerAAAGAGAATATGGAAAGAGCTTGTTTGA > AAAGAGAATATGGAAGAGCTTGTTTGA

Cell Line and Pedigree Information

AUS, WKH

References

• 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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