Table 2 Allele frequencies (%) of MC1R single nucleotide polymorphisms in seven populations.
From: Nucleotide diversity and population differentiation of the Melanocortin 1 Receptor gene, MC1R
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 |