PMID: 24982914

A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.

BioMed research international
HH Hu, M Benfodda, N Dumaz, S Gazal, V Descamps, A Bourillon, N Basset-Seguin, A Riffault, K Ezzedine, M Bagot, A Bensussan, P Saiag, B Grandchamp, N Soufir
2014

73 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89985907-G-C MC1R c.241G>C p.Ala81Pro Missense 1/1 -
16-89986122-C-A MC1R c.456C>A p.Tyr152* Nonsense 1/1 -
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -
16-89986084-G-A MC1R c.418G>A p.Val140Met Missense 1/1 -
16-89986519-G-A MC1R c.853G>A p.Ala285Thr Missense 1/1 -
16-89985766-C-T MC1R c.100C>T p.Arg34Trp Missense 1/1 -
16-89986539-C-T MC1R c.873C>T p.Ala291Ala Synonymous 1/1 -
16-89986016-A-T MC1R c.350A>T p.Asp117Val Missense 1/1 -
16-89985866-G-A MC1R c.200G>A p.Arg67Gln Missense 1/1 -
16-89986432-C-T MC1R c.766C>T p.Pro256Ser Missense 1/1 -
16-89986614-C-T MC1R c.948C>T p.Ser316Ser Synonymous 1/1 -
16-89986279-G-C MC1R c.613G>C p.Val205Leu Missense 1/1 -
16-89986333-C-T MC1R c.667C>T p.Arg223Trp Missense 1/1 -
16-89985976-G-A MC1R c.310G>A p.Gly104Ser Missense 1/1 -
16-89986527-C-G MC1R c.861C>G p.Ile287Met Missense 1/1 -
16-89986030-G-A MC1R c.364G>A p.Val122Met Missense 1/1 -
16-89986560-C-T MC1R c.894C>T p.Tyr298Tyr Synonymous 1/1 -
16-89986197-G-A MC1R c.531G>A p.Thr177Thr Synonymous 1/1 -
16-89986583-G-A MC1R c.917G>A p.Arg306His Missense 1/1 -
16-89986617-G-T MC1R c.951G>T p.Trp317Cys Missense 1/1 -
16-89986149-G-A MC1R c.483G>A p.Ala161Ala Synonymous 1/1 -
16-89986566-C-T MC1R c.900C>T p.Phe300Phe Synonymous 1/1 -
16-89986356-G-A MC1R c.690G>A p.Pro230Pro Synonymous 1/1 -
16-89986178-C-A MC1R c.512C>A p.Ala171Asp Missense 1/1 -
16-89986039-T-C MC1R c.373T>C p.Cys125Arg Missense 1/1 -
16-89986145-G-A MC1R c.479G>A p.Arg160Gln Missense 1/1 -
16-89986330-G-T MC1R c.664G>T p.Ala222Ser Missense 1/1 -
16-89986520-C-G MC1R c.854C>G p.Ala285Gly Missense 1/1 -
16-89986608-A-T MC1R c.942A>T p.Thr314Thr Synonymous 1/1 -
16-89985913-T-C MC1R c.247T>C p.Ser83Pro Missense 1/1 -
16-89985871-C-G MC1R c.205C>G p.Leu69Val Missense 1/1 -
16-89985865-C-T MC1R c.199C>T p.Arg67Trp Missense 1/1 -
16-89986085-T-G MC1R c.419T>G p.Val140Gly Missense 1/1 -
16-89986486-G-A MC1R c.820G>A p.Gly274Ser Missense 1/1 -
16-89986498-A-G MC1R c.832A>G p.Lys278Glu Missense 1/1 -
16-89986032-G-A MC1R c.366G>A p.Val122Val Synonymous 1/1 -
16-89986143-G-C MC1R c.477G>C p.Pro159Pro Synonymous 1/1 -
16-89986137-C-T MC1R c.471C>T p.Thr157Thr Synonymous 1/1 -
16-89986365-G-A MC1R c.699G>A p.Gln233Gln Synonymous 1/1 -
16-89986025-T-C MC1R c.359T>C p.Ile120Thr Missense 1/1 -
16-89986032-G-C MC1R c.366G>C p.Val122Val Synonymous 1/1 -
16-89986287-C-T MC1R c.621C>T p.Tyr207Tyr Synonymous 1/1 -
16-89986133-T-C MC1R c.467T>C p.Val156Ala Missense 1/1 -
16-89986080-C-T MC1R c.414C>T p.Ile138Ile Synonymous 1/1 -
16-89985950-C-T MC1R c.284C>T p.Thr95Met Missense 1/1 -
16-89985799-T-C MC1R c.133T>C p.Phe45Leu Missense 1/1 -
16-89986558-T-C MC1R c.892T>C p.Tyr298His Missense 1/1 -
16-89985770-G-A MC1R c.104G>A p.Cys35Tyr Missense 1/1 -
16-89986508-A-G MC1R c.842A>G p.Asn281Ser Missense 1/1 -
16-89986303-C-T MC1R c.637C>T p.Arg213Trp Missense 1/1 -
16-89986593-C-T MC1R c.927C>T p.Leu309Leu Synonymous 1/1 -
16-89985778-G-A MC1R c.112G>A p.Val38Met Missense 1/1 -
16-89986203-C-T MC1R c.537C>T p.Phe179Phe Synonymous 1/1 -
16-89986494-C-T MC1R c.828C>T p.Ile276Ile Synonymous 1/1 -
16-89986318-G-A MC1R c.652G>A p.Ala218Thr Missense 1/1 -
16-89986081-G-A MC1R c.415G>A p.Ala139Thr Missense 1/1 -
16-89986608-A-C MC1R c.942A>C p.Thr314Thr Synonymous 1/1 -
16-89986608-A-G MC1R c.942A>G p.Thr314Thr Synonymous 1/1 -
16-89986170-C-T MC1R c.504C>T p.Ile168Ile Synonymous 1/1 -
16-89986561-G-A MC1R c.895G>A p.Ala299Thr Missense 1/1 -
16-89986356-G-C MC1R c.690G>C p.Pro230Pro Synonymous 1/1 -
16-89986531-T-C MC1R c.865T>C p.Cys289Arg Missense 1/1 -
16-89985788-C-G MC1R c.122C>G p.Ser41Cys Missense 1/1 -
16-89985962-T-C MC1R c.296T>C p.Leu99Pro Missense 1/1 -
16-89986092-C-A MC1R c.426C>A p.Arg142Arg Synonymous 1/1 -
16-89986055-C-T MC1R c.389C>T p.Ser130Phe Missense 1/1 -
16-89986373-G-A MC1R c.707G>A p.Gly236Asp Missense 1/1 -
16-89986458-C-T MC1R c.792C>T p.Ile264Ile Synonymous 1/1 -
16-89986144-C-A MC1R c.478C>A p.Arg160Arg Synonymous 1/1 -
16-89986594-A-C MC1R c.928A>C p.Lys310Gln Missense 1/1 -
16-89986090-C-T MC1R c.424C>T p.Arg142Cys Missense 1/1 -
16-89986170-C-A MC1R c.504C>A p.Ile168Ile Synonymous 1/1 -
16-89986467-C-A MC1R c.801C>A p.Cys267* Nonsense 1/1 -