Sequence, phylogenetic and variant analyses of antithrombin III

- 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.