Table 1.
Summary of population genetic statistics of eleven membrane transporters in the SLC family
|
Gene |
HGNC name |
Chromosome |
PAVa(#) |
RFVb(#) |
πcoding (× 104)c |
πS (× 104) |
πNS (× 104) |
πNS/πS |
Orthologsd |
|---|---|---|---|---|---|---|---|---|---|
| OCT1 | SLC22A1 | 6q26 | 15 | 5 | 6.58 ± 4.78 | 11.20 ± 11.00 | 5.11 ± 4.40 | 0.46 | 7 |
| OCT2 | SLC22A2 | 6q26 | 9 | 1 | 6.99 ± 4.99 | 22.54 ± 17.50 | 2.23 ± 2.64 | 0.10 | 7 |
| OCTN1 | SLC22A4 | 5q31.1 | 6 | 3 | 8.13 ± 5.58 | 13.98 ± 12.65 | 6.25 ± 5.04 | 0.45 | 5 |
| OCTN2 | SLC22A5 | 5q31.1 | 8 | 1 | 6.58 ± 4.77 | 23.93 ± 18.01 | 1.01 ± 1.70 | 0.04 | 6 |
| OAT1 | SLC22A6 | 11q13.1-q13.2 | 6 | 1 | 1.25 ± 1.70 | 3.87 ± 5.88 | 0.37 ± 1.02 | 0.10 | 7 |
| OAT3 | SLC22A8 | 11q11 | 10 | 5 | 4.25 ± 3.57 | 15.20 ± 13.42 | 0.74 ± 1.46 | 0.05 | 6 |
| CNT1 | SLC28A1 | 15q25-26 | 12 | 2 | 11.96 ± 7.24 | 22.55 ± 16.51 | 8.56 ± 5.98 | 0.38 | 5 |
| CNT2 | SLC28A2 | 15q15 | 5 | 0 | 7.64 ± 5.09 | 7.61 ± 8.22 | 7.64 ± 5.47 | 1.00 | 6 |
| CNT3 | SLC28A3 | 9q22.2 | 10 | 1 | 5.54 ± 3.97 | 18.13 ± 14.19 | 1.81 ± 2.13 | 0.10 | 5 |
| ENT1 | SLC29A1 | 6p21.1-p21.2 | 2 | 0 | 0.38 ± 0.97 | 0.60 ± 2.47 | 0.30 ± 1.00 | 0.50 | 6 |
| ENT2
|
SLC29A2
|
11q13
|
5
|
3
|
0.54 ± 1.18
|
1.81 ± 4.27
|
0.11 ± 0.61
|
0.06
|
4
|
-
↵a PAV: protein-altering variants
-
↵b RFV: reduced-function variants
-
↵c Values of π are listed as mean ± standard deviation. πcoding is the nucleotide diversity in the entire coding region of each gene, πS is the nucleotide diversity at synonymous sites and πNS is the nucleotide diversity at non-synonymous sites
-
↵d Number of orthologs used in the alignments for manual scoring of evolutionarily conserved residues
