Scrutinizing Deleterious Nonsynonymous SNPs and Their Effect on Human POLD1 Gene

Table 2

Association of deleterious SNPs with domain structure.

Family	Description	Entry type	Start	End	E-value	Amino acid substitution
DNA_pol_B	DNA polymerase family B	Domain	541	597	1.3e − 06	R549H
DNA_pol_B	DNA polymerase family B	Domain	614	999	4.0e − 127	T666A, G669R, E741K, R817P, R715Q, G790S, R817W,R849C, G922C, E928Q
DNA_pol_B_exo1	DNA polymerase family B, exonuclease dom…	Domain	130	477	4.6e − 84	G143S, R211H, R211C, R224H R311C, L357R, R386C, R423H, R444Q, R465Q, Y472H
zf-C4pol	C4-type zinc-finger of DNA polymerase de…	Domain	1038	1108	7.8e − 19	—