Scrutinizing Deleterious Nonsynonymous SNPs and Their Effect on Human POLD1 Gene

Table 1

Different properties of deleterious SNPs.

rs ID	Amino acid substitution	Conservation scale	MAF	Secondary structure	Property change
rs9282830	R5W	9	0.000189	Coil	(i) Bigger than wild; (ii) Positive to neutral; (iii) More hydrophobic
rs140858857	I101F	3	2.48E − 05	Extracellular	(i) Bigger than wild
rs141319800	R78C	1	4.14E − 05	Coil	(i) Smaller than wild; (ii) Positive to neutral; (iii) More hydrophobic
rs141579552	V122M	2		Extracellular	(i) Bigger than wild
rs142017093	R817P	8	1.68E − 05	Extracellular	(i) Smaller than wild; (ii) Positive to neutral; (iii) More hydrophobic
rs142361709	G669R	6		Coil	(i) Bigger than wild; (ii) Neutral to positive; (iii) Less hydrophobic
rs143340270	L357R	9		Extracellular	(i) Bigger than wild; (ii) Neutral to positive; (iii) Less hydrophobic
rs146530638	R715Q	9	6.68E − 05	Helix	(i) Smaller than wild; (ii) Positive to neutral
rs148176230	R817W	8	8.42E − 06	Extracellular	(i) Bigger than wild; (ii) Positive to neutral; (iii) More hydrophobic
rs148838746	G790S	8	8.39E − 05	Coil	(i) Bigger than wild
rs199576140	R423H	9	3.32E − 05	Coil	(i) Smaller than wild; (ii) Positive to neutral
rs199700312	R465Q	9	1.48E − 05	Helix	(i) Smaller than wild; (ii) Positive to neutral
rs200679966	R211C	7	1.78E − 05	Extracellular	(i) Smaller than wild; (ii) Positive to neutral; (iii) More hydrophobic
rs201010746	R311C	9	1.17E − 05	Coil	(i) Smaller than wild; (ii) Positive to neutral; (iii) More hydrophobic
rs201038430	R549H	9	8.33E − 06	Coil	(i) Smaller than wild; (ii) Positive to neutral
rs201212113	T666A	8		Coil	(i) Smaller than wild; (ii) More hydrophobic
rs201503929	R444Q	8		Coil	(i) Smaller than wild; (ii) Positive to neutral
rs201804732	R525W	8	4.97E − 05	Helix	(i) Bigger than wild; (ii) Positive to neutral; (ii) More hydrophobic
rs370557271	G922C	3		Coil	(i) Bigger than wild; (ii) More hydrophobic
rs371667262	R1016C	8		Not found	(i) Smaller than wild; (ii) Positive to neutral; (iii) More hydrophobic
rs373001984	R224H	7	1.76E − 05	Helix	(i) Smaller than wild; (ii) Positive to neutral
rs373046355	R386C	3	3.3E − 05	Helix	(i) Smaller than wild; (ii) Positive to neutral; (iii) More hydrophobic
rs373192520	R211H	7	8E − 05	Extracellular	(i) Smaller than wild; (ii) Positive to neutral
rs373951714	E928Q	8		Helix	(iii) Negative to neutral
rs376946722	R849C	9	0.000114	Extracellular	(i) Smaller than wild; (ii) Positive to neutral; (iii) More hydrophobic
rs1052471	Y472H	9		Coil	(i) Bigger than wild; (ii) Less hydrophobic
rs369988982	E741K	6		Helix	(i) Bigger than wild; (ii) Negative to positive
rs377088357	G143S	5	4.95E − 05	Coil	(iii) Bigger than wild

Involved in binding site formation; posttranslational modification sites; MAF: minor allele frequency.