Table 4 Distribution of MC1R variants among patients with CM and their healthy relatives and in the control group.
From: Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families
No | MC1R variant | Pts and healthy relatives (n = 64) | Allel Freq. (%) | Control group (n = 54) | Allel Freq. (%) | p | |
|---|---|---|---|---|---|---|---|
| Â | Protein | Nucleotide | Â | Â | Â | Â | Â |
1 | p. V60L | c.178G > T | 11 | 8.6 | 9 | 8.3 | 1.00 |
2 | p. V92M | c.274G > A | 13 | 10.1 | 9 | 8.3 | 0.66 |
3 | p. R142H | c.425G > A | 1 | 0.8 | 0 | 0.0 | 1.00 |
4 | p.R151C* | c.451C > T | 12 | 9.4 | 6 | 5.5 | 0.32 |
5 | p.I155T | c.464T > C | 1 | 0.8 | 0 | 0.0 | 1.00 |
6 | p.R160W* | c.478C > T | 11 | 8.6 | 8 | 7.4 | 0.81 |
7 | p.R163Q | c.488G > A | 6 | 4.7 | 4 | 3.7 | 0.75 |
8 | p.R213W | C.637C > T | 1 | 0.8 | 0 | 0.0 | 1.00 |
9 | p.A218T | c.652G > A | 0 | 0.0 | 1 | 0.9 | 0.46 |
10 | p.G239G | c.717C > T | 0 | 0.0 | 1 | 0.9 | 0.46 |
11 | Â | c.754delC | 1 | 0.8 | 0 | 0.0 | 1.00 |
12 | p.L286V | c.856C > G | 2 | 1.6 | 0 | 0.0 | 0.50 |
13 | p.D294H* | c.880G > C | 1 | 0.8 | 0 | 0.0 | 1.00 |
14 | p.T314T | c.942A > G | 14 | 10.9 | 10 | 9.2 | 0.82 |
15 | p.S316S | c.948C > T | 0 | 0.0 | 1 | 0.9 | 0.46 |