Coding Position | Amino Acid Position | Ref SNP | Allele Frequency | No. of Chromosomes with Variant (a/b) | |
---|---|---|---|---|---|
66 Patients with T2Da | 1000 Genome Project | ||||
−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.