c.1509-1510insATCT

Mutation Description

This mutation consists of the duplication of the 4 bp c.1506-1509ATCT (c.1509-1510insATCT) in exon 10.

Mutation Effect

This mutation results in a frameshift, causing the addition of 3 new amino acids after SER426 followed by premature termination and a predicted 429 residue protein.

Sequence context

HisLeuSerProAsnAspAsn   > HisLeuSerIsoSerGlnTer
CATTTATCTCCCAATGATAATGA > CATTTATCTATCTCCCAATGATAATGA

Cell Line and Pedigree Information

MIM

Reference(s)

• Oshima, J., et al., Hum. Mol. Genet. 5:1909-1913, (1996).

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