PMID: 11511307

Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color.

The Journal of investigative dermatology
C Kennedy, J ter Huurne, M Berkhout, N Gruis, M Bastiaens, W Bergman, R Willemze, JN Bavinck
2001-08

19 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89986186-CGTC-C MC1R c.520_522delGTC p.Val174delVal InFrameDeletion 1/1 -
16-89986365-G-A MC1R c.699G>A p.Gln233Gln Synonymous 1/1 -
16-89986502-A-G MC1R c.836A>G p.Asn279Ser Missense 1/1 -
16-89986186-G-A MC1R c.520G>A p.Val174Ile Missense 1/1 -
16-89985950-C-T MC1R c.284C>T p.Thr95Met Missense 1/1 -
16-89985907-G-C MC1R c.241G>C p.Ala81Pro Missense 1/1 -
16-89986356-G-C MC1R c.690G>C p.Pro230Pro Synonymous 1/1 -
16-89986503-C-A MC1R c.837C>A p.Asn279Lys Missense 1/1 -
16-89986458-C-T MC1R c.792C>T p.Ile264Ile Synonymous 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 -
16-89985976-G-A MC1R c.310G>A p.Gly104Ser Missense 1/1 -
16-89986355-C-T MC1R c.689C>T p.Pro230Leu Missense 1/1 -
16-89986119-C-G MC1R c.453C>G p.Arg151Arg Synonymous 1/1 -
16-89985937-A-G MC1R c.271A>G p.Asn91Asp Missense 1/1 -
16-89986498-A-G MC1R c.832A>G p.Lys278Glu Missense 1/1 -
16-89986356-G-A MC1R c.690G>A p.Pro230Pro Synonymous 1/1 -
16-89986445-A-C MC1R c.779A>C p.His260Pro Missense 1/1 -
16-89985718-C-G MC1R c.52C>G p.Pro18Ala Missense 1/1 -