|
Allele frequencies (%) of MC1R single nucleotide polymorphisms in seven populations. |
|||||||||
| protein |
nucleotide |
All subjects |
Africa |
Asia |
India |
NoEur |
SoEur |
US |
PNG |
|
|
|||||||||
| p.P18A |
c.52 C>G |
0 |
0 |
0 |
0 |
0.08 |
0 |
0 |
0 |
| p.C35Y |
c.104 G>A |
0 |
0 |
0 |
0 |
0 |
0.12 |
0 |
0 |
| p.V38M |
c.112 G>A |
0 |
0 |
0 |
0 |
0 |
0.06 |
0 |
0 |
| p.L44V |
c.130 C>G |
0 |
0 |
0 |
0 |
0 |
0.06 |
0 |
0 |
| p.F45L |
c.133 T>C |
0 |
0 |
0 |
0 |
0 |
0.24 |
0 |
0 |
| p.S47I |
c.140 G>T |
0 |
0.43 |
0 |
0 |
0 |
0 |
0 |
0 |
| p.L50L |
c.150 G>A |
0 |
1.28 |
0 |
0 |
0 |
0 |
0 |
0 |
| p.V60L |
c.178 G>T |
0.10 |
0 |
0 |
0 |
10.69 |
15.75 |
13.21 |
0 |
| p.R67Q |
c.200 G>A |
0 |
0 |
1.17 |
0 |
0 |
0.06 |
0 |
0 |
| p.A81P |
c.241 G>C |
0 |
0 |
0 |
0 |
0.08 |
0 |
0 |
0 |
| p.S83P |
c.247 T>C |
0 |
0 |
0 |
0 |
0.15 |
0.12 |
0.19 |
0 |
| p.S83L |
c.248 C>T |
0 |
0 |
0 |
0 |
0 |
0.06 |
0 |
0 |
| p.D84E |
c.252 C>A |
0 |
0 |
0 |
0 |
1.00 |
0.12 |
1.51 |
0 |
| p.V92M |
c.274 G>A |
0.07 |
0 |
13.41 |
0.94 |
8.00 |
3.70 |
9.06 |
3.75 |
| p.T95M |
c.284 C>T |
0 |
0 |
0 |
0 |
0.08 |
0.12 |
0 |
0 |
| p.L99I |
c.295 C>A |
0 |
0.43 |
0 |
0 |
0 |
0 |
0 |
0 |
| p.A103A |
c.309 C>T |
0 |
0.43 |
0 |
0 |
0 |
0 |
0 |
0 |
| p.L106Q |
c.317 T>A |
0 |
0 |
0 |
0 |
0 |
0.06 |
0 |
0 |
| L106L |
c.318 G>A |
0 |
1.71 |
0 |
0 |
0 |
0.12 |
0 |
0 |
| p.A111V |
c.332 C>T |
0 |
0 |
0 |
0 |
0 |
0.18 |
0 |
0 |
| p.I120T |
c.359 T>C |
0 |
0 |
1.75 |
0 |
0 |
0.06 |
0 |
0 |
| p.V122M |
c.364 G>A |
0 |
0 |
0 |
0 |
0 |
0.24 |
0 |
0 |
| p.V122V |
c.366 G>C |
0 |
0 |
0 |
0 |
0 |
0.12 |
0 |
0 |
| p.R142H |
c.425 G>A |
0.01 |
0 |
0 |
0 |
0.62 |
1.31 |
0.75 |
0 |
| p.R151C |
c. 451 C>T |
0.03 |
0 |
0 |
0 |
5.62 |
3.16 |
6.42 |
0 |
| p.Y152X |
c.456 C>A |
0 |
0 |
0 |
0 |
0 |
0.06 |
0 |
0 |
| p.I155T |
c.464 T>C |
0 |
0 |
0 |
0 |
0.23 |
0.48 |
1.51 |
0 |
| p.R160W |
c.478 C>T |
0.04 |
0 |
0 |
0 |
8.31 |
1.85 |
7.17 |
0 |
| p.R160Q |
c.479 G>A |
0 |
0 |
0 |
0 |
0 |
0.06 |
0 |
5 |
| p.R163Q |
c.488 G>A |
0.14 |
0 |
75.51 |
4.72 |
4.62 |
1.61 |
4.15 |
0 |
| p.A166A |
c.498 G>A |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
11.25 |
| p.I168I |
c.504 C>T |
0 |
0.43 |
0 |
0 |
0 |
0 |
0 |
0 |
| p.A171D |
c.512 C>A |
0 |
0 |
0 |
0 |
0 |
0.06 |
0 |
0 |
| p.V174I |
c.520 G>A |
0 |
0 |
0 |
0 |
0.08 |
0 |
0 |
0 |
| p.Y182Y |
c.546 C>T |
0 |
0 |
0 |
0 |
0 |
0 |
0.19 |
0 |
| p.F196L |
c.586 T>C |
0 |
2.14 |
0.15 |
0 |
0.08 |
0 |
0 |
0 |
| p.R213W |
c.637 C>T |
0 |
0 |
0 |
0 |
0 |
0.06 |
0 |
0 |
| p.G220G |
c.660 C>T |
0 |
0 |
0 |
0 |
0 |
0.06 |
0 |
0 |
| p.Q228Q |
c.684 G>A |
0 |
0 |
0 |
0 |
0 |
0.12 |
0 |
0 |
| p.P230L |
c.689 C>T |
0 |
0 |
0 |
0 |
0.31 |
0 |
0 |
0 |
| p.P230P |
c.690 G>A |
0 |
0 |
0 |
0 |
0.08 |
0 |
0 |
0 |
| p.Q233Q |
c.699 G>A |
0 |
0 |
0 |
0 |
0 |
0.36 |
0.19 |
0 |
| p.A240A |
c.720 T>C |
0 |
0 |
0 |
0 |
0 |
0 |
0.19 |
0 |
| p.T242T |
c.726 C>T |
0 |
0 |
0 |
0 |
0 |
0.12 |
0 |
0 |
| p.G248V |
c.743 G>T |
0 |
0 |
0 |
0 |
0 |
0.06 |
0 |
0 |
| p.H260P |
c.779 A>C |
0 |
0 |
0 |
0 |
0.23 |
0 |
0 |
0 |
| p.I264I |
c.792 C>T |
0 |
0 |
0 |
0 |
0.15 |
0 |
0 |
0 |
| p.V265V |
c.795 C>G |
0 |
1.28 |
0 |
0 |
0 |
0 |
0 |
0 |
| p.C273C |
c.819 C>T |
0 |
0.43 |
0 |
0 |
0 |
0 |
0 |
0 |
| p.K278E |
c.832 A>G |
0 |
0 |
0 |
0 |
0.23 |
0.24 |
0 |
0 |
| p.N279K |
c.837 C>A |
0 |
0 |
0 |
0 |
0 |
0.06 |
0 |
0 |
| p.D294H |
c.880 G>C |
0.01 |
0 |
0 |
0 |
1 |
1.43 |
2.45 |
0 |
| p.F300F |
c.900 C>T |
0 |
2.99 |
0 |
0 |
0 |
0 |
0 |
0 |
| p.T308M |
c.923 C>T |
0 |
0 |
0 |
0 |
0 |
0.06 |
0 |
0 |
| p.T314T |
c.942 A>G |
0.09 |
44.44 |
13.27 |
13.21 |
7.69 |
2.33 |
10.75 |
18.75 |
|
Abbreviations: SoEur, Southern Europe, NoEur, Northern Europe, PNG, Papua New Guinea, US, United States. Allele frequency % were rounded to two decimal places, therefore, rare alleles may be reported as zero due to rounding. | |||||||||
Savage et al. BMC Genetics 2008 9:31 doi:10.1186/1471-2156-9-31 |
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