PMID: 23360207

Variants in melanocortin 1 receptor gene contribute to risk of melanoma--a direct sequencing analysis in a Texas population.

Pigment cell & melanoma research
X Guan, J Niu, Z Liu, LE Wang, CI Amos, JE Lee, JE Gershenwald, EA Grimm, Q Wei
2013-05

65 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89985654-C-T MC1R c.1-13C>T - 5-UTRSNV 1/1 -
16-89985799-T-C MC1R c.133T>C p.Phe45Leu Missense 1/1 -
16-89985982-C-T MC1R c.316C>T p.Leu106Leu Synonymous 1/1 -
16-89986526-T-G MC1R c.860T>G p.Ile287Ser Missense 1/1 -
16-89986133-T-C MC1R c.467T>C p.Val156Ala Missense 1/1 -
9-21854647-T-G MTAP c.468T>G p.Ala156Ala Synonymous 6/8 -
9-21854647-T-A MTAP c.468T>A p.Ala156Ala Synonymous 6/8 -
16-89986216-G-A MC1R c.550G>A p.Asp184Asn Missense 1/1 -
16-89986502-A-G MC1R c.836A>G p.Asn279Ser Missense 1/1 -
16-89986365-G-A MC1R c.699G>A p.Gln233Gln Synonymous 1/1 -
16-89985887-A-G MC1R c.221A>G p.Tyr74Cys Missense 1/1 -
16-89985950-C-T MC1R c.284C>T p.Thr95Met Missense 1/1 -
16-89985752-A-AA MC1R c.86dupA p.Asn29Lysfs*14 Frameshift 1/1 -
16-89986303-C-T MC1R c.637C>T p.Arg213Trp Missense 1/1 -
16-89986242-C-G MC1R c.576C>G p.Leu192Leu Synonymous 1/1 -
16-89986242-C-T MC1R c.576C>T p.Leu192Leu Synonymous 1/1 -
16-89985994-G-A MC1R c.328G>A p.Ala110Thr Missense 1/1 -
16-89986317-C-T MC1R c.651C>T p.His217His Synonymous 1/1 -
16-89986281-G-A MC1R c.615G>A p.Val205Val Synonymous 1/1 -
16-89985778-G-A MC1R c.112G>A p.Val38Met Missense 1/1 -
16-89986608-A-C MC1R c.942A>C p.Thr314Thr Synonymous 1/1 -
16-89986318-G-A MC1R c.652G>A p.Ala218Thr Missense 1/1 -
16-89985773-T-C MC1R c.107T>C p.Leu36Pro Missense 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 -
16-89986221-C-T MC1R c.555C>T p.His185His Synonymous 1/1 -
16-89985984-G-C MC1R c.318G>C p.Leu106Leu Synonymous 1/1 -
16-89986090-C-A MC1R c.424C>A p.Arg142Ser Missense 1/1 -
16-89986029-C-G MC1R c.363C>G p.Asp121Glu Missense 1/1 -
16-89986122-C-A MC1R c.456C>A p.Tyr152* Nonsense 1/1 -
16-89986132-G-C MC1R c.466G>C p.Val156Leu Missense 1/1 -
16-89986503-C-A MC1R c.837C>A p.Asn279Lys Missense 1/1 -
16-89986252-T-C MC1R c.586T>C p.Phe196Leu Missense 1/1 -
16-89985722-C-T MC1R c.56C>T p.Thr19Ile Missense 1/1 -
16-89986090-C-T MC1R c.424C>T p.Arg142Cys Missense 1/1 -
16-89986458-C-T MC1R c.792C>T p.Ile264Ile Synonymous 1/1 -
16-89985931-G-C MC1R c.265G>C p.Gly89Arg Missense 1/1 -
16-89986119-C-T MC1R c.453C>T p.Arg151Arg Synonymous 1/1 -
16-89986119-C-A MC1R c.453C>A p.Arg151Arg Synonymous 1/1 -
16-89986119-C-G MC1R c.453C>G p.Arg151Arg Synonymous 1/1 -
16-89986383-C-T MC1R c.717C>T p.Gly239Gly Synonymous 1/1 -
16-89986432-C-T MC1R c.766C>T p.Pro256Ser Missense 1/1 -
16-89986383-C-G MC1R c.717C>G p.Gly239Gly Synonymous 1/1 -
16-89986614-C-T MC1R c.948C>T p.Ser316Ser Synonymous 1/1 -
16-89986583-G-A MC1R c.917G>A p.Arg306His Missense 1/1 -
16-89986030-G-A MC1R c.364G>A p.Val122Met Missense 1/1 -
16-89986355-C-T MC1R c.689C>T p.Pro230Leu Missense 1/1 -
16-89986333-C-T MC1R c.667C>T p.Arg223Trp Missense 1/1 -
16-89985754-C-T MC1R c.88C>T p.Gln30* Nonsense 1/1 -
16-89986409-G-T MC1R c.743G>T p.Gly248Val Missense 1/1 -
16-89986566-C-T MC1R c.900C>T p.Phe300Phe Synonymous 1/1 -
16-89986058-G-A MC1R c.392G>A p.Ser131Asn Missense 1/1 -
16-89985753-C-G MC1R c.87C>G p.Asn29Lys Missense 1/1 -
16-89985753-C-A MC1R c.87C>A p.Asn29Lys Missense 1/1 -
16-89986608-A-T MC1R c.942A>T p.Thr314Thr Synonymous 1/1 -
16-89986242-C-A MC1R c.576C>A p.Leu192Leu Synonymous 1/1 -
16-89986164-G-A MC1R c.498G>A p.Ala166Ala Synonymous 1/1 -
16-89986065-C-T MC1R c.399C>T p.Cys133Cys Synonymous 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 -
9-21854647-T-C MTAP c.468T>C p.Ala156Ala Synonymous 6/8 -
16-89986445-A-T MC1R c.779A>T p.His260Leu Missense 1/1 -
16-89986632-G-A MC1R c.*12G>A - 3-UTRSNV 1/1 -
16-89986498-A-G MC1R c.832A>G p.Lys278Glu Missense 1/1 -