Table 1.
Frequency of MC1R variants detected in Melanoma patients.
| Total patients (N=1679) | ||||
|---|---|---|---|---|
| Nucleotide change | AA change | Score Polyphen2A | Genomic status | N (%) |
| c.5C>T | p.A2V | 0.000 | Het. | 1 (0.1) |
| Hom. | - | |||
| c.112G>A | p.V38M | 0.006 | Het. | 1 (0.1) |
| Hom. | - | |||
| c.121T> | p.S41C | 0.067 | Het. | 1 (0.1) |
| Hom. | - | |||
| c.175C>T | p.V59M | 1.00 | Het. | 1 (0.1) |
| Hom. | - | |||
| c.178T>G | p.V60L | 0.988 | Het. | 459 (27.3) |
| Hom. | 44 (2.6) | |||
| c.190G>A | p.A64T | 0.988 | Het. | 1 (0.1) |
| Hom. | - | |||
| c.248C>T | p.S83L | 0.998 | Het. | 3 (0.2) |
| Hom. | - | |||
| c.247T>C | p.S83P | 0.998 | Het. | 5 (0.3) |
| Hom. | - | |||
| c.252C>A | p.D84ERHC | 0.999 | Het. | 17 (1.0) |
| Hom. | - | |||
| c.251C>C | p.D84H | 1.00 | Het. | 4 (0.2) |
| Hom. | - | |||
| c.265G>A | p.G89R | 0.737 | Het. | 1 (0.1) |
| Hom. | - | |||
| c.274G>A | p.V92M | 0.015 | Het. | 195 (11.6) |
| Hom. | 2 (0.1) | |||
| c.284C>T | p.T95M | 0.889 | Het. | 3 (0.2) |
| Hom. | - | |||
| c.357C>A | p.V119V | - | Het. | 2 (0.1) |
| Hom. | - | |||
| c.364G>A | p.V122M | 0.126 | Het. | 25 (1.5) |
| Hom. | - | |||
| c.383T4C | p.M128T | 0.235 | Het. | 3 (0.2) |
| Hom. | - | |||
| c.425G>A | p.R142HRHC | 1.000 | Het. | 54 (3.2) |
| Hom. | 1 (0.1) | |||
| c.424C>A | p.R142S | 1.000 | Het. | 1 (0.1) |
| Hom. | - | |||
| c.424C>T | p.R142C | 1.000 | Het. | 1 (0.1) |
| Hom. | - | |||
| c.434C>T | p.S145F | 0.989 | Het. | 1 (0.1) |
| Hom. | - | |||
| c.438C>T | p.A146A | - | Het. | 1 (0.1) |
| Hom. | - | |||
| c.445G>A | p.A149T | 1.000 | Het. | 2 (0.1) |
| Hom. | - | |||
| c.446C>T | p.A149V | 1.00 | Het. | 1 (0.1) |
| Hom. | - | |||
| c.451C>T | p.R151CRHC | 1.000 | Het. | 139 (8.3) |
| Hom. | 9 (0.5) | |||
| c.464T>C | p.I155T | 0.986 | Het. | 60 (3.6) |
| Hom. | 4 (0.2) | |||
| c.466C>G | p.V156L | 0.567 | Het. | 1 (0.1) |
| Hom. | 0 (0) | |||
| c.467T>C | p.V156A | 0.784 | Het. | 1 (0.1) |
| Hom. | - | |||
| c.478C>T | p.R160WRHC | 0.861 | Het. | 103 (6.1) |
| Hom. | 1 (0.1) | |||
| c.488G>A | p.R163Q | 0.004 | Het. | 69 (4.1) |
| Hom. | 1 (0.1) | |||
| c.504C>T | p.I168I | - | Het. | 5 (0.3) |
| Hom. | - | |||
| c.546C>T | p.Y182Y | - | Het. | 2 (0.1) |
| Hom. | - | |||
| c.550G>A | p.D184N | 0.001 | Het. | 1 (0.1) |
| Hom. | - | |||
| c.586T>C | p.F196L | 0.997 | Het. | 1 (0.1) |
| Hom. | - | |||
| c.637C>T | p.R213W | 0.019 | Het. | 1 (0.1) |
| Hom. | - | |||
| c.699G>A | p.Q233Q | - | Het. | 30 (1.8) |
| Hom. | - | |||
| c.741G>A | p.L247L | - | Het. | 1 (0.1) |
| Hom. | - | |||
| c.766C>T | p.P256S | 1.000 | Het. | 1 (0.1) |
| Hom. | - | |||
| c.788T>C | p.L263P | 1.00 | Het. | 1 (0.1) |
| Hom. | - | |||
| c.792C>T | p.I264I | - | Het. | 1 (0.1) |
| Hom. | - | |||
| c.793G>A | p.V265I | 0.067 | Het. | 1 (0.1) |
| Hom. | - | |||
| c.813C>T | p.P271P | - | Het. | 1 (0.1) |
| Hom. | - | |||
| c.814A>G | p.T272A | 0.006 | Het. | 2 (0.1) |
| Hom. | - | |||
| c.815C>T | p.T272M | 0.974 | Het. | 1(0.1) |
| Hom. | - | |||
| c.815C>A | p.T272K | 0.944 | Het. | 2 (0.1) |
| Hom. | - | |||
| c.835A>G | p.N279D | 0.979 | Het. | 1 (0.1) |
| Hom. | - | |||
| c.850C>T | p.L284F | 0.965 | Het. | 1 (0.1) |
| Hom. | - | |||
| g.860T>G | p.I287S | 0.996 | het. | 1 (0.1) |
| hom. | - | |||
| c.861C>G | p.I287M | 0.999 | het. | 1 (0.1) |
| hom. | - | |||
| g.880G>C | p.D294HRHC | 1.000 | het. | 151 (9.0) |
| hom. | 7 (0.4) | |||
| c.892 C>T | p.R298R | het. | 1 (0.1) | |
| hom. | - | |||
| c.923C>T | p.T308M | 0.979 | het. | 1 (0.1) |
| hom. | - | |||
| g.942A>G | p.T314T | - | het. | 287 (17.1) |
| hom. | 8 (0.5) | |||
| g.948C>T | p.S316S | - | het. | 2 (0.1) |
| hom. | - |
Novel variants are indicated in bold.
A
In-silico impact prediction of each non-synonymous variants on the structure and MC1R function (values close to 0.000: benign; values close to 1.00: damaging).
RHC
Variant associated to Red hair colour phenotype. Het: variant in heterozygosis. Hom: Variant in homozygosis.