Annotation Detail
Information
- Associated Genes
- MC1R
- Associated Variants
-
MC1R MUTATION
MC1R MUTATION
MC1R p.Asp84Glu (p.D84E), ENSG00000198211 p.Asp84Glu (p.D84E) ( ENST00000555147.2, ENST00000639847.1, ENST00000555427.1 )
MC1R p.Asp84Glu (p.D84E), ENSG00000198211 p.Asp84Glu (p.D84E) ( ENST00000555427.1, ENST00000639847.1, ENST00000555147.2 )
MC1R p.Arg151Gly (p.R151G), ENSG00000198211 p.Arg151Gly (p.R151G) ( ENST00000555427.1, ENST00000639847.1, ENST00000555147.2 )
MC1R p.Arg151Cys (p.R151C), ENSG00000198211 p.Arg151Cys (p.R151C) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Arg160Trp (p.R160W), ENSG00000198211 p.Arg160Trp (p.R160W) ( ENST00000555147.2, ENST00000639847.1, ENST00000555427.1 )
MC1R p.Asp294Asn (p.D294N), ENSG00000198211 p.Asp294Asn (p.D294N) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Asp294His (p.D294H), ENSG00000198211 p.Asp294His (p.D294H) ( ENST00000639847.1, ENST00000555427.1, ENST00000555147.2 )
MC1R p.Asp84Glu (p.D84E), ENSG00000198211 p.Asp84Glu (p.D84E) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Asp84Glu (p.D84E), ENSG00000198211 p.Asp84Glu (p.D84E) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Arg151Gly (p.R151G), ENSG00000198211 p.Arg151Gly (p.R151G) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Arg151Cys (p.R151C), ENSG00000198211 p.Arg151Cys (p.R151C) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Arg160Trp (p.R160W), ENSG00000198211 p.Arg160Trp (p.R160W) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Asp294Asn (p.D294N), ENSG00000198211 p.Asp294Asn (p.D294N) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Asp294His (p.D294H), ENSG00000198211 p.Asp294His (p.D294H) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 ) - Associated Disease
- Erythema
- Source Database
- DisGeNET
- Description
- Persons carrying MC1R homozygote variant alleles at R151C, R160W, D294H and D84E were more likely to have fair skin, red hair and to spend less time outdoors than those who did not.
- Pubmed
- 20129839
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00318135759484294
- Year of publication
- 2010
Drugs