Table 2.
Frequency of melanocortin-1 receptor (MC1R) variants in cyclin-dependent kinase inhibitor 2A (CDKN2A) mutation carriers analyzed by continent and in all three continents*
| MC1R nucleotide change | MC1R amino acid change | Europe | North America | Australia | All continents | ||||
| No. of chromosomes† (n = 994) |
No. of chromosomes† (n = 386) |
No. of chromosomes† (n = 250) |
No. of chromosomes† (n =1630) |
||||||
| No. of chromosomes with and without MC1R variant‡ | % of chromosomes with and without MC1R variant§ | No. of chromosomes with and without MC1R variant‡ | % of chromosomes with and without MC1R variant§ | No. of chromosomes with and without MC1R variant‡ | % of chromosomes with and without MC1R variant§ | No. of chromosomes with and without MC1R variant‡ | % of chromosomes with and without MC1R variant§ | ||
| Consensus sequence‡ | None | 386 | 38.8 | 145 | 37.6 | 96 | 38.4 | 627 | 38.5 |
| Nonsynonymous frequent variants║ | |||||||||
| g.178G>T | V60L | 123 | 12.4 | 63 | 16.3 | 26 | 10.4 | 212 | 13.0 |
| g.274G>A | V92M | 105 | 10.5 | 29 | 7.5 | 21 | 8.4 | 155 | 9.5 |
| g.451C>T | R151C | 116 | 11.7 | 40 | 10.4 | 61 | 24.4 | 217 | 13.3 |
| g.478C>T | R160W | 94 | 9.5 | 33 | 8.5 | 17 | 6.8 | 144 | 8.8 |
| Nonsynonymous rare variants¶ | |||||||||
| g.44A>G | N15S | 0 | 0 | 0 | 0 | 1 | 0.4 | 1 | 0.1 |
| g.206A>C | H69P | 1 | 0.1 | 0 | 0 | 0 | 0 | 1 | 0.1 |
| g.247T>C | S83P | 0 | 0 | 4 | 1.0 | 0 | 0 | 4 | 0.3 |
| g.248C>T | S83L | 2 | 0.2 | 0 | 0 | 0 | 0 | 2 | 0.1 |
| g.252C>A | D84E | 9 | 0.9 | 6 | 1.6 | 2 | 0.8 | 17 | 1.0 |
| g.284C>T | T95M | 3 | 0.3 | 0 | 0 | 0 | 0 | 3 | 0.2 |
| g.364G>A | V122M | 2 | 0.2 | 0 | 0 | 0 | 0 | 2 | 0.1 |
| g.383T>A | M128K | 1 | 0.1 | 0 | 0 | 0 | 0 | 1 | 0.1 |
| g.425G>A | R142H | 5 | 0.5 | 1 | 0.3 | 0 | 0 | 6 | 0.4 |
| g.456C>A | Y152X | 2 | 0.2 | 0 | 0 | 1 | 0.4 | 3 | 0.2 |
| g.464T>C | I155T | 12 | 1.2 | 10 | 2.6 | 1 | 0.4 | 23 | 1.4 |
| g.488G>A | R163Q | 51 | 5.1 | 12 | 3.1 | 11 | 4.4 | 74 | 4.5 |
| g.512C>G | A171G | 2 | 0.2 | 0 | 0 | 0 | 0 | 2 | 0.1 |
| g.586T>C | F196L | 1 | 0.1 | 0 | 0 | 0 | 0 | 1 | 0.1 |
| g.652G>A | A218T | 1 | 0.1 | 0 | 0 | 0 | 0 | 1 | 0.1 |
| g.653C>G | A218G | 1 | 0.1 | 0 | 0 | 0 | 0 | 1 | 0.1 |
| g.662T>C | I221T | 2 | 0.2 | 0 | 0 | 0 | 0 | 2 | 0.1 |
| g.835A>G | N279D | 5 | 0.5 | 0 | 0 | 0 | 0 | 5 | 0.3 |
| g.880G>C | D294H | 21 | 2.1 | 16 | 4.2 | 8 | 3.2 | 45 | 2.8 |
| Insertions | |||||||||
| g_86_87insA | 1 | 0.1 | 5 | 1.3 | 0 | 0 | 6 | 0.4 | |
| g_537_538insC | 1 | 0.1 | 0 | 0 | 0 | 0 | 1 | 0.1 | |
| Synonymous frequent variants║ | |||||||||
| g.942A>G | T314T | 102 | 10.3 | 41 | 10.7 | 9 | 3.7 | 152 | 9.3 |
| Synonymous rare variants¶ | |||||||||
| g.102G>C | R34R | 0 | 0 | 1 | 0.3 | 0 | 0 | 1 | 0.1 |
| g.399C>T | C133C | 1 | 0.1 | 0 | 0 | 0 | 0 | 1 | 0.1 |
| g.637C>A | R213R | 1 | 0.1 | 0 | 0 | 0 | 0 | 1 | 0.1 |
| g.699G>A | Q233Q | 2 | 0.2 | 0 | 0 | 0 | 0 | 2 | 0.1 |
| g.720T>C | A240A | 0 | 0 | 1 | 0.3 | 0 | 0 | 1 | 0.1 |
| g.792C>T | I264I | 0 | 0 | 3 | 0.8 | 0 | 0 | 3 | 0.2 |
| g.948C>T | S316S | 1 | 0.1 | 0 | 0 | 1 | 0.4 | 2 | 0.1 |
The frequency of MC1R variants was estimated in all CDKN2A mutation carriers genotyped for MC1R. (N = 815: 497 from Europe, 193 from North America, and 125 from Australia).
The number of chromosomes was twice the number of CDKN2A mutation carriers genotyped for MC1R.
The number of chromosomes carrying no MC1R variant (consensus sequence) and those carrying a given variant are shown for all CDKN2A mutation carriers per continent and in all three continents.
The proportions shown in this table are the number of chromosomes carrying no MC1R variant (consensus sequence) or a given variant divided by the total number of chromosomes in CDKN2A mutation carriers per continent and in all three continents.
The frequent variants shown in this table are those with an estimated frequency greater than or equal to 5% in CDKN2A mutation carriers from at least one continent and all three continents.
The rare variants shown in this table are those with an estimated frequency less than 5% in CDKN2A mutation carriers from all three continents.