c.3724C>T

Mutation Description

This mutation consists of a transition from C to T at c.3724 in exon 30.

Mutation Effect

This mutation is a nonsense mutation, resulting in GLN1165TER yielding a predicted 1164 residue protein

Sequence context

GluAlaArgGlnLysHis > GluAlaArgTer

GAAGCTAGGCAGAAACAT > GAAGCTAGGTAGAAACAT

Cell Line and Pedigree Information

SY, TUR

Reference(s)

• Yu, C. E., et al., Science 272:258-262, (1996).

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