c.4144C>T

Mutation Description

This mutation consists of a transition from C to T at c.4144 in exon 30.

Mutation Effect

This mutation is a nonsense mutation, resulting in ARG1305TER yielding a predicted 1304 residue protein.

Sequence context

AspLeuGluArgAlaGlyLeu > AspLeuGluTerGATTTGGAGCGAGCAGGCCTG > GATTTGGAGTGAGCAGGCCTG

Cell Line and Pedigree Information

GAR, HH, HM, NN

Reference(s)

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

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