Sequence, phylogenetic and variant analyses of antithrombin III.

Highlights: [•] ATIII possesses additional intron 262c is maintained in ray-finned fishes, but lost in other vertebrates. [•] ATIII is maintained in same genomic loci with few changes in fishes. [•] ATIII has 1997 variants in 1092 human genomes from 14 populations. [•] Three top variation classes are 76.2% SNPs, 11.8% deletions and 8.1% insertions. [•] There are 63 missense variants of human ATIII causes change in amino acids. [ABSTRACT FROM AUTHOR]