Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling.

ABSTRACT: Small in-frame insertion-deletion (indel) variants are a common form of genomic variation whose impact on rare disease phenotypes has been understudied. The prediction of the pathogenicity of such variants remains challenging. X-linked incomplete congenital stationary night blindness type 2 (CSNB2) is a nonprogressive, inherited retinal disorder caused by variants in CACNA1F, encoding the Ca_v1.4α1 channel protein. Here, structural analysis was used through homology modeling to interpret 10 disease-correlated and 10 putatively benign CACNA1F in-frame indel variants. CSNB2-correlated changes were found to be more highly conserved compared with putative benign variants. Notably, all 10 disease-correlated variants but none of the benign changes were within modeled regions of the pro

SUBMITTER: Sallah SR 

PROVIDER: S-EPMC12179508 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature