Mutation Description
This mutation consists of a large deletion of > 15 kb between two Alu repeat sequences within IVS18 and IVS23.
Mutation Effect
This mutation results in loss of exons 19-23 and then a frameshift, causing the addition of 8 new amino acids after MET696, followed by premature termination of a predicted 704 residue protein.
Sequence context
Intronic sequences are not publicly available
LeuProMetValProIso > LeuProMetIsoGlySerLeuLeuPheHisGlyTerCTGCCAATGGTTCCAATC > CTGCCAATGATTGGATCATTGCTATTCCATGGATGAEXON18EXON19 > EXON18EXON24
Cell Line and Pedigree Information
DJG, SUG, Sanan
Reference(s)