Mutation Description
This mutation consists of the duplication of c.4146A in exon 33.
Mutation Effect
This mutation results in a frameshift, causing the addition of 12 new amino acids after ARG1305 followed by premature termination and a predicted 1317 residue protein.
Sequence context
LeuGluArgAlaGlyLeu > LeuGluArgSerArgProAspSRGSEDYCTerTTTGGAGCGAGCAGGCCTGAC > TTTGGAGCGAAGCAGGCCTGAC
Cell Line and Pedigree Information
Japanese Mutation 5
Reference(s)