PMID: 24045876

Simultaneous purifying selection on the ancestral MC1R allele and positive selection on the melanoma-risk allele V60L in south Europeans.

Molecular biology and evolution
C Martínez-Cadenas, S López, G Ribas, C Flores, O García, A Sevilla, I Smith-Zubiaga, M Ibarrola-Villaba, Mdel M Pino-Yanes, J Gardeazabal, D Boyano, A García de Galdeano, N Izagirre, C de la Rúa, S Alonso
2013-12

30 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89985931-G-A MC1R c.265G>A p.Gly89Arg Missense 1/1 -
16-89986352-G-A MC1R c.686G>A p.Arg229His Missense 1/1 -
16-89985975-C-G MC1R c.309C>G p.Ala103Ala Synonymous 1/1 -
16-89985975-C-A MC1R c.309C>A p.Ala103Ala Synonymous 1/1 -
16-89985788-C-T MC1R c.122C>T p.Ser41Phe Missense 1/1 -
16-89986585-A-G MC1R c.919A>G p.Arg307Gly Missense 1/1 -
16-89986469-C-G MC1R c.803C>G p.Pro268Arg Missense 1/1 -
1-235973800-C-T LYST c.318G>A p.Leu106Leu Synonymous 5/53 -
16-89985975-C-T MC1R c.309C>T p.Ala103Ala Synonymous 1/1 -
16-89986303-C-T MC1R c.637C>T p.Arg213Trp Missense 1/1 -
1-235973800-C-G LYST c.318G>C p.Leu106Leu Synonymous 5/53 -
1-235973800-C-A LYST c.318G>T p.Leu106Leu Synonymous 5/53 -
16-89986608-A-G MC1R c.942A>G p.Thr314Thr Synonymous 1/1 -
16-89986363-C-T MC1R c.697C>T p.Gln233* Nonsense 1/1 -
16-89986608-A-C MC1R c.942A>C p.Thr314Thr Synonymous 1/1 -
16-89986243-G-A MC1R c.577G>A p.Val193Met Missense 1/1 -
16-89985788-C-G MC1R c.122C>G p.Ser41Cys Missense 1/1 -
16-89986571-G-A MC1R c.905G>A p.Ser302Asn Missense 1/1 -
16-89986503-C-A MC1R c.837C>A p.Asn279Lys Missense 1/1 -
16-89986206-C-A MC1R c.540C>A p.Ile180Ile Synonymous 1/1 -
16-89986458-C-T MC1R c.792C>T p.Ile264Ile Synonymous 1/1 -
16-89986519-G-A MC1R c.853G>A p.Ala285Thr Missense 1/1 -
16-89986614-C-T MC1R c.948C>T p.Ser316Ser Synonymous 1/1 -
16-89986206-C-T MC1R c.540C>T p.Ile180Ile Synonymous 1/1 -
16-89985931-G-C MC1R c.265G>C p.Gly89Arg Missense 1/1 -
1-235973802-G-A LYST c.316C>T p.Leu106Leu Synonymous 5/53 -
16-89986608-A-T MC1R c.942A>T p.Thr314Thr Synonymous 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 -
16-89986566-C-T MC1R c.900C>T p.Phe300Phe Synonymous 1/1 -