Research Article
A Large French Case-Control Study Emphasizes the Role of Rare Mc1R Variants in Melanoma Risk
Table 4
Localisation of MC1R variants according to their classification and to their demonstrated or predicted functional impact.
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Protein region |
RHC variant (R) | Non-RHC variant (r) |
Frequent non-RHC (r) | Rare r | Predicted to be damaging (D)a | Predicted to be nondamaging (nD)a |
| N-terminus | M1-E37 | | | 1 | 1 | Transmembrane 1 | V38-I63 | | x | 4 | 5 | Intracellular 1 | A64-P72 | | | 3 | 2 | Transmembrane 2 | M73-L100 | x | x | 16 | 2 | Extracellular 1 | L101-Q115 | | | 0 | 1 | Transmembrane 3 | L116-Y143 | x | | 7 | 6 | Intracellular 2 | I144-R162 | x | x | 4 | 0 | Transmembrane 4 | R163-Y183 | | x | 1 | 0 | Extracellular 2 | D184-L192 | | | 0 | 0 | Transmembrane 5 | V193-A218 | | | 9 | 0 | Intracellular 3 | Q219-G236 | | | 2 | 1 | Transmembrane 6 | L237-V265 | | | 2 | 0 | Extracellular 3 | L266-I276 | | | 1 | 1 | Transmembrane 7 | F277-A299 | x | | 11 | 2 | C-terminus | F300-W317 | | | 2 | 1 |
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Number of alleles found in each protein domain. The crosses indicate localisation of RHC variants or frequent non-RHC variants.
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