TABLE 2

Genetic variants of OCT1 identified in Chinese and Japanese from the 1000 Genomes Project (nsSNPs) (n = 59) and 66 Japanese patients with type 2 diabetes

Coding Position	Amino Acid Position	Ref SNP	Allele Frequency		No. of Chromosomes with Variant (a/b)
Coding Position	Amino Acid Position	Ref SNP	66 Patients with T2D^a	1000 Genome Project	No. of Chromosomes with Variant (a/b)
−43 T>G	Intron 1	rs4646272	0.34	0.59	45/70
289 C>A^*	Q97K	N.A.	N.D	0.017	0/2
480 G>C	L160F	rs683369	N.D	0.88	0/104
350 C>T^*	P117L	N.A.	0.023	N.D	3/0
616 C>T^*	R206C	N.A.	0.008	N.D	1/0
1022 C>T	P341L	rs2282143	N.D	0.19	0/22
1222 G>A	V408M	rs628031	0.15	0.19	20/22

N.A., not available. N.D., not determined.
↵* The nsSNPs were functionally characterized in this report. Positions are relative to the ATG start site and are based on the cDNA sequence from GenBank accession no. NM_003057. a/b, the number of chromosome with variants between ^a66 patients with T2D and ^b59 CHB/JPT in the 1000 Genomes Project.