Table 1.
Coding region variants of hMATE1 (SLC47A1) identified in ethnically diverse populations
dbSNP ID numbers | CDS Position | Nucleotide Change | Amino Acid Position | Amino Acid Change | EC/EU | Allele Frequency | |||
---|---|---|---|---|---|---|---|---|---|
AA (n=136) | EA (n=136) | AS (n=136) | ME (n=136) | ||||||
rs61733934 | 87 | C→T | 29 | S→S | EU | 0 | 0.022 | 0 | 0.007 |
NA | 191 | G→A | 64 | G→D | EC | 0 | 0 | 0.007 | 0 |
rs34012597 | 270 | C→T | 90 | F→F | EU | 0.051 | 0 | 0 | 0 |
NA | 373 | C→T | 125 | L→F | EC | 0 | 0 | 0.007 | 0.051 |
rs16960203 | 708 | C→T | 236 | L→L | EC | 0.007 | 0 | 0.083 | 0.076 |
NA | 891 | C→T | 297 | I→I | EC | 0.008 | 0 | 0 | 0 |
rs35790011 | 1012 | G→A | 338 | V→I | EU | 0.051 | 0 | 0 | 0 |
NA | 1438 | G→A | 480 | V→M | EU | 0 | 0 | 0.008 | 0 |
rs35395280 | 1490 | G→C | 497 | C→S | EU | 0.024 | 0 | 0 | 0 |
NA | 1557 | G→C | 519 | Q→H | EC | 0.008 | 0 | 0 | 0 |
Abbreviations: AA, African American; AS, Asian American; EA, European American; EC, evolutionarily conserved; EU, evolutionarily unconserved; ME, Mexican American.
Note: CDS position is given in reference to the ATG start site (where position +1 is the ‘A’ in ATG). EC residues are defined as residues identical among human, mouse and rat orthologs of MATE1; all other residues were classified as EU. Population-specific allele frequencies are given.