Table 2.
Characteristics of variants that exhibit reduced function in biochemical assays
| Variant | Total freq.a | AA freq.b | EA freq. | AS freq. | ME freq. | Grantham | EC/EUc | Loop/TMDd |
|---|---|---|---|---|---|---|---|---|
| OCT1-R61C | 0.036 | 0.000 | 0.072 | 0.000 | 0.056 | 85 | EC | L |
| OCT1-G220V | 0.002 | 0.005 | 0.000 | 0.000 | 0.000 | 109 | EC | T |
| OCT1-P341L | 0.041 | 0.082 | 0.000 | 0.117 | 0.000 | 98 | EU | L |
| OCT1-G401S | 0.009 | 0.007 | 0.011 | 0.000 | 0.000 | 56 | EC | L |
| OCT1-G465R | 0.020 | 0.000 | 0.040 | 0.000 | 0.000 | 125 | EC | L |
| OCT2-F45Ins | 0.002 | 0.000 | 0.005 | 0.000 | 0.000 | n/a | n/a | T |
| OCTN1-D165G | 0.002 | 0.000 | 0.000 | 0.008 | 0.000 | 94 | EC | L |
| OCTN1-M205I | 0.002 | 0.006 | 0.000 | 0.000 | 0.000 | 10 | EC | T |
| OCTN1-R282X | 0.002 | 0.006 | 0.000 | 0.000 | 0.000 | n/a | n/a | L |
| OCTN2-F17L | 0.004 | 0.000 | 0.000 | 0.017 | 0.000 | 22 | EC | L |
| OAT1-R454Q | 0.002 | 0.006 | 0.000 | 0.000 | 0.000 | 43 | EC | L |
| OAT3-R149S | 0.004 | 0.000 | 0.006 | 0.008 | 0.000 | 177 | EC | L |
| OAT3-Q239X | 0.002 | 0.000 | 0.000 | 0.008 | 0.000 | n/a | n/a | T |
| OAT3-I260R | 0.002 | 0.000 | 0.000 | 0.008 | 0.000 | 97 | EC | L |
| OAT3-R277W | 0.002 | 0.007 | 0.000 | 0.000 | 0.000 | 101 | EU | L |
| OAT3-I305F | 0.009 | 0.000 | 0.000 | 0.035 | 0.011 | 21 | EC | L |
| CNT1-V385Del | 0.015 | 0.030 | 0.000 | 0.000 | 0.000 | n/a | n/a | L |
| CNT1-S546P | 0.003 | 0.005 | 0.000 | 0.000 | 0.000 | 74 | EC | T |
| CNT3-G367R | 0.002 | 0.000 | 0.000 | 0.008 | 0.000 | 125 | EU | T |
| ENT2-D5Y | 0.003 | 0.005 | 0.000 | 0.000 | 0.000 | 160 | EU | L |
| ENT2-S184Del | 0.003 | 0.000 | 0.005 | 0.000 | 0.000 | n/a | n/a | L |
| ENT2-S282Del | 0.003 | 0.005 | 0.000 | 0.000 | 0.000 | n/a | n/a | L |
a
For OCT1, OCT2, CNT1, and ENT2 variants, total population includes 100 AA and 100 EA samples. For OCTN1, OCTN2, OAT1, OAT3, and CNT3, total population includes 80 AA, 80 EA, 60 AS, and 50 ME samples
b
(AA) African American; (EA) European American; (AS) Asian American; (ME) Mexican American
c
(EC) evolutionarily conserved; (EU) evolutionarily unconserved
d
Variant residue is located in predicted transmembrane domain (T) or loop region (L) of protein