PMID: 24335900

Modeling MC1R rare variants: a structural evaluation of variants detected in a Mediterranean case-control study.

The Journal of investigative dermatology
M Ibarrola-Villava, M Peña-Chilet, MJ Llorca-Cardeñosa, S Oltra, CM Cadenas, J Bravo, G Ribas
2014-04

22 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89986030-G-A MC1R c.364G>A p.Val122Met Missense 1/1 -
16-89985940-G-C MC1R c.274G>C p.Val92Leu Missense 1/1 -
16-89986520-C-T MC1R c.854C>T p.Ala285Val Missense 1/1 -
16-89986498-A-G MC1R c.832A>G p.Lys278Glu Missense 1/1 -
16-89985913-T-C MC1R c.247T>C p.Ser83Pro Missense 1/1 -
16-89986469-C-G MC1R c.803C>G p.Pro268Arg Missense 1/1 -
16-89985801-C-G MC1R c.135C>G p.Phe45Leu Missense 1/1 -
16-89985931-G-A MC1R c.265G>A p.Gly89Arg Missense 1/1 -
16-89986049-T-C MC1R c.383T>C p.Met128Thr Missense 1/1 -
16-89986481-C-T MC1R c.815C>T p.Thr272Met Missense 1/1 -
16-89985770-G-A MC1R c.104G>A p.Cys35Tyr Missense 1/1 -
16-89985788-C-T MC1R c.122C>T p.Ser41Phe Missense 1/1 -
16-89985799-T-C MC1R c.133T>C p.Phe45Leu Missense 1/1 -
16-89986508-A-G MC1R c.842A>G p.Asn281Ser Missense 1/1 -
16-89985940-G-T MC1R c.274G>T p.Val92Leu Missense 1/1 -
16-89986303-C-T MC1R c.637C>T p.Arg213Trp Missense 1/1 -
16-89986589-C-T MC1R c.923C>T p.Thr308Met Missense 1/1 -
16-89986558-T-C MC1R c.892T>C p.Tyr298His Missense 1/1 -
16-89986503-C-A MC1R c.837C>A p.Asn279Lys Missense 1/1 -
16-89986090-C-T MC1R c.424C>T p.Arg142Cys Missense 1/1 -
16-89985931-G-C MC1R c.265G>C p.Gly89Arg Missense 1/1 -
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -