c.1336C>T

c.1336C>T

Mutation Description

This mutation consists of a transition from C to T at c.1336 in exon 9.

Mutation Effect

This mutation is a nonsense mutation, resulting in ARG369TER yielding a predicted 368 residue protein

Sequence context

LysValGluArgLysGluAsp > LysValGluTerAAAGTGGAACGAAAAGAAGAT > AAAGTGGAATGAAAAGAAGAT

Cell Line and Pedigree Information

LGS, OW, KUN

Reference

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

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