Mutation Description
This mutation consists of the deletion of GA from the sequence c.3265-3268GAGA in exon 25.
Mutation Effect
This mutation results in a frameshift, causing the addition of 12 new amino acids after THR1011 followed by premature termination and a predicted 1023 residue protein.
Sequence context
LysAspGlnThrGluSerTrpTrpLysAla > LysAspGlnThrGluLeuValGluGlyPhePheProSerAlaAspHisTer AAGGATCAAACAGAGAGTTGGTGGAAGGCT > AAGGATCAAACAGAGTTGGTGGAAGGCTTTTTCCCGTCAGCTGATCACTGA
Cell line and pedigree information
CWW
Reference