PMID: 27131830

The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder.

Neurobiology of aging
Z Gan-Or, N Mohsin, SL Girard, JY Montplaisir, A Ambalavanan, S Strong, V Mallett, SB Laurent, CV Bourassa, M Boivin, M Langlois, I Arnulf, B Högl, B Frauscher, C Monaca, A Desautels, JF Gagnon, RB Postuma, PA Dion, Y Dauvilliers, N Dupre, RN Alcalay, GA Rouleau
2016-07

76 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89986203-C-CC MC1R c.537dupC p.Ile180Hisfs*59 Frameshift 1/1 -
16-89986395-C-T MC1R c.729C>T p.Leu243Leu Synonymous 1/1 -
16-89986344-G-A MC1R c.678G>A p.Lys226Lys Synonymous 1/1 -
16-89986614-C-T MC1R c.948C>T p.Ser316Ser Synonymous 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 -
16-89985907-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 -
16-89986119-C-T MC1R c.453C>T p.Arg151Arg Synonymous 1/1 -
16-89986119-C-G MC1R c.453C>G p.Arg151Arg Synonymous 1/1 -
16-89986119-C-A MC1R c.453C>A p.Arg151Arg Synonymous 1/1 -
16-89985766-C-T MC1R c.100C>T p.Arg34Trp Missense 1/1 -
16-89986333-C-T MC1R c.667C>T p.Arg223Trp Missense 1/1 -
16-89986273-A-G MC1R c.607A>G p.Met203Val Missense 1/1 -
16-89986111-G-A MC1R c.445G>A p.Ala149Thr Missense 1/1 -
16-89985992-G-A MC1R c.326G>A p.Arg109Gln Missense 1/1 -
16-89985976-G-A MC1R c.310G>A p.Gly104Ser Missense 1/1 -
16-89986215-C-T MC1R c.549C>T p.Tyr183Tyr Synonymous 1/1 -
16-89986058-G-A MC1R c.392G>A p.Ser131Asn Missense 1/1 -
16-89986030-G-A MC1R c.364G>A p.Val122Met Missense 1/1 -
16-89986566-C-T MC1R c.900C>T p.Phe300Phe Synonymous 1/1 -
16-89986527-C-A MC1R c.861C>A p.Ile287Ile Synonymous 1/1 -
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
16-89986065-C-T MC1R c.399C>T p.Cys133Cys Synonymous 1/1 -
16-89986145-G-A MC1R c.479G>A p.Arg160Gln Missense 1/1 -
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
16-89985913-T-C MC1R c.247T>C p.Ser83Pro Missense 1/1 -
16-89985806-G-C MC1R c.140G>C p.Ser47Thr Missense 1/1 -
16-89986608-A-T MC1R c.942A>T p.Thr314Thr Synonymous 1/1 -
16-89986083-C-T MC1R c.417C>T p.Ala139Ala Synonymous 1/1 -
16-89986083-C-G MC1R c.417C>G p.Ala139Ala Synonymous 1/1 -
16-89986498-A-G MC1R c.832A>G p.Lys278Glu Missense 1/1 -
16-89985961-C-A MC1R c.295C>A p.Leu99Ile Missense 1/1 -
16-89985909-C-A MC1R c.243C>A p.Ala81Ala Synonymous 1/1 -
16-89985909-C-G MC1R c.243C>G p.Ala81Ala Synonymous 1/1 -
16-89986025-T-C MC1R c.359T>C p.Ile120Thr Missense 1/1 -
16-89986455-C-A MC1R c.789C>A p.Leu263Leu Synonymous 1/1 -
16-89985718-C-G MC1R c.52C>G p.Pro18Ala Missense 1/1 -
16-89985958-A-G MC1R c.292A>G p.Ile98Val Missense 1/1 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
16-89986610-G-C MC1R c.944G>C p.Cys315Ser Missense 1/1 -
16-89986181-G-T MC1R c.515G>T p.Ser172Ile Missense 1/1 -
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
16-89985982-C-T MC1R c.316C>T p.Leu106Leu Synonymous 1/1 -
16-89986158-C-T MC1R c.492C>T p.Ala164Ala Synonymous 1/1 -
16-89986365-G-A MC1R c.699G>A p.Gln233Gln Synonymous 1/1 -
16-89986133-T-C MC1R c.467T>C p.Val156Ala Missense 1/1 -
16-89986032-G-A MC1R c.366G>A p.Val122Val Synonymous 1/1 -
16-89986032-G-C MC1R c.366G>C p.Val122Val Synonymous 1/1 -
16-89986220-A-G MC1R c.554A>G p.His185Arg Missense 1/1 -
16-89986212-C-T MC1R c.546C>T p.Tyr182Tyr Synonymous 1/1 -
16-89985836-C-T MC1R c.170C>T p.Ala57Val Missense 1/1 -
16-89985951-G-A MC1R c.285G>A p.Thr95Thr Synonymous 1/1 -
16-89985950-C-T MC1R c.284C>T p.Thr95Met Missense 1/1 -
16-89985767-G-A MC1R c.101G>A p.Arg34Gln Missense 1/1 -
16-89985752-A-AA MC1R c.86dupA p.Asn29Lysfs*14 Frameshift 1/1 -
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
16-89985799-T-C MC1R c.133T>C p.Phe45Leu Missense 1/1 -
16-89986608-A-C MC1R c.942A>C p.Thr314Thr Synonymous 1/1 -
16-89986303-C-T MC1R c.637C>T p.Arg213Trp Missense 1/1 -
16-89986125-C-T MC1R c.459C>T p.His153His Synonymous 1/1 -
16-89985984-G-A MC1R c.318G>A p.Leu106Leu Synonymous 1/1 -
16-89985984-G-T MC1R c.318G>T p.Leu106Leu Synonymous 1/1 -
16-89986608-A-G MC1R c.942A>G p.Thr314Thr Synonymous 1/1 -
16-89986561-G-A MC1R c.895G>A p.Ala299Thr Missense 1/1 -
16-89986243-G-A MC1R c.577G>A p.Val193Met Missense 1/1 -
16-89985984-G-C MC1R c.318G>C p.Leu106Leu Synonymous 1/1 -
16-89986154-G-A MC1R c.488G>A p.Arg163Gln Missense 1/1 -
16-89986163-C-G MC1R c.497C>G p.Ala166Gly Missense 1/1 -
16-89986503-C-A MC1R c.837C>A p.Asn279Lys Missense 1/1 -
16-89985995-C-G MC1R c.329C>G p.Ala110Gly Missense 1/1 -
16-89986333-C-G MC1R c.667C>G p.Arg223Gly Missense 1/1 -
16-89986458-C-T MC1R c.792C>T p.Ile264Ile Synonymous 1/1 -
16-89985961-CT-AC MC1R c.295_296delCTinsAC p.Leu99Thr Missense 1/1 -
16-89986288-G-C MC1R c.622G>C p.Val208Leu Missense 1/1 -