Genetic variants in the CD59 gene: An exploratory study of large genome databases.

ABSTRACT:

Background

CD59 is a GPI-anchored glycoprotein on the surface of many cell types. It inhibits the assembly of the membrane attack complex, thus preventing complement-mediated cell lysis. Lack of a functional CD59 protein causes recurrent ischemic strokes, neuropathy, and chronic hemolysis. We aimed at a comprehensive analysis of the CD59 gene from publicly available databases to identify variants and evaluate their pathophysiologic potential.

Methods

Variants in the CD59 coding sequence of exons 4, 5, and 6 and their splice sites were systematically compiled from 4 major populations across 6 whole-genome and whole-exome databases. The PredictSNP algorithm assessed the functional impact of non-synonymous variants.

Results

Among 488,592 individuals, 160 distinct alleles

SUBMITTER: Srivastava K 

PROVIDER: S-EPMC12432816 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature