Centrosomal protein of 290 kDa IVS26 mutant allele (CEP290 IVS26 mutant allele)

The CEP290 IVS26 mutant allele (c.2991+1655A>G) refers to a deep intronic mutation in the CEP290 gene common in patients with Leber congenital amaurosis type 10 (LCA10). This mutation creates an aberrant splice site, resulting in the insertion of cryptic exon material, leading to a truncated, non-functional CEP290 protein. This disrupts primary cilium formation and maintenance in retinal cells, leading to early-onset severe vision loss. The mutant allele is not a traditional therapeutic target like a receptor or enzyme, but serves as a precision gene therapy target for CRISPR/Cas9-based approaches (e.g., EDIT-101), aiming to correct or remove the pathogenic splice site and restore functional CEP290 expression. The query refers to a "mutant allele" (a disease-causing nucleotide sequence, not a gene product like a receptor or enzyme). This is not a conventional pharmacological target (i.e., not a protein or RNA but a pathogenic DNA sequence). By convention, this should map to the gene (CEP290) and the specific mutation (IVS26/c.2991+1655A>G), not to a protein or receptor. No canonical receptor/enzyme/transporter form exists for this entity; it is a genetic lesion underpinning disease. If strict structured data for classic targets is required, you should map to "CEP290 protein (mutant, IVS26 allele)" or "CEP290 gene (IVS26 splice variant)", but note that this is not a receptor, enzyme, etc.

Other names

CEP290 intron 26 mutantCEP290 IVS26 mutationc.2991+1655A>G mutant alleleCEP290 LCA10 mutant

Removal of cryptic splice site by CRISPR/Cas9 gene editing to restore normal CEP290 splicing and functional protein expression