Mutation Description
This mutation consists of the deletion of an G at c.3004 in exon 23.
Mutation Effect
This mutation results in a frameshift, causing the addition of 48 new amino acids after LYS924, followed by premature termination of a predicted 972 residue protein.
Comments
Sequence context
GlnValGlnLysAlaSerLeuGlyIle > GlnValGlnLysProProTrpGluLWELKNAVIIAGPDWIIAIPWMTQRIHPGTLVHKHLSFCLLWTSTerCAAGTACAAAAAGCCTCCTTGGGAATT > CAAGTACAAAAACCTCCTTGGGAA
Cell Line and Pedigree Information
WV1
Reference(s)