
Mutation Description
This mutation consists of the deletion of CAAA from c.3259-3262 in exon 25.
Mutation Effect
This mutation results in a frameshift, causing the addition of 10 new amino acids after GLN1010 followed by premature termination and a predicted 1020 residue protein.
Sequence context
ThrGlyLysAspGlnThrGluSerTrpTrpLysAla > ThrGlyLysAspGlnArgValGlyGlyArgLeuPheProValSerTer ACTGGCAAGGATCAAACAGAGAGTTGGTGGAAGGCT > ACTGGCAAGGATCAGAGAGTTGGTGGAAGGCTTTTTCCCGTCAGCTGA
Cell line and pedigree information
CWW
Reference