Analysis of missense SNPs in the SLC47A1 and SLC47A2 genes affecting the pharmacokinetics of metformin: Computational approach

Egyptian Journal of Medical Human Genetics

Table 1 Deleterious missense SNPs in the human SLC47A1 gene determined by bioinformatic tools

SNP ID	Nucleotide substitution	Amino acid change	SIFT result	SIFT score	PolyPhen-2 result	PolyPhen-2 score	PROVEAN result (cut-off = − 2.5)	PROVEAN score	PhD-SNP result	PhD-SNP RI	PMut result	PMut score
rs77138970	G/A	R118Q	DEL	0.003	Pro-damg	0.999	DEL	− 3.847	Neutral	1	Diseased	0.65
rs77630697	G/A	G64D	DEL	0.002	Pro-damg	1.000	DEL	− 6.576	Diseased	5	Diseased	0.83
rs143542564	C/T	S151F	DEL	0.001	Pro-damg	0.995	DEL	− 4.770	Diseased	3	Diseased	0.65
rs145557304	A/G	Y203C	DEL	0.004	Pro-damg	1.000	DEL	− 6.345	Diseased	4	Neutral	0.33
rs145720500	T/C	M269T	DEL	0.002	Pro-damg	1.000	DEL	− 5.911	Diseased	3	Diseased	0.65
rs147768037	G/A	G424R	DEL	0.001	Pro-damg	1.000	DEL	− 7.544	Diseased	8	Diseased	0.87
rs149729794	C/A	P186T	DEL	0.002	Pro-damg	1.000	DEL	− 7.578	Diseased	3	Diseased	0.63
rs200191180	T/C	L116P	DEL	0.001	Pro-damg	1.000	DEL	− 6.598	Diseased	6	Diseased	0.82
rs200450505	G/A	G113D	DEL	0	Pro-damg	1.000	DEL	− 6.731	Diseased	6	Diseased	0.77
rs201666623	G/T	G285V	DEL	0	Pro-damg	1.000	DEL	− 8.845	Diseased	6	Diseased	0.73
rs202140517	G/A	G67S	DEL	0.025	Pro-damg	0.965	DEL	− 5.623	Diseased	0	Neutral	0.32
rs372035240	G/T	W274L	DEL	0.013	Pro-damg	0.998	DEL	− 12.807	Diseased	3	Neutral	0.47
rs375863644	C/T	R261C	DEL	0.012	Pro-damg	0.994	DEL	− 4.335	Diseased	2	Neutral	0.40