Exploring a variant in pig
The human gene MC4R has been associated with obesity. The SNP rs81219178 has been identified as a variant in the pig MC4R gene.
(a) What is the amino acid change caused by rs81219178 in MC4R of the pig? Is the change likely to alter the protein function?
(b) How many transcripts does this variant affect? What are the consequences of this variant?
(a) Go to the Ensembl homepage.
Type rs81219178 in the Search box, then click Go.
Click on rs81219178 (Pig Variant, Breed: reference).
Click on Genes and regulation in the left-hand menu or on the icon.
The variant causes a D->N amino acid change (Aspartic acid -> Asparagine). The SIFT score of 0.01 predicts that this change will have a deleterious effect on the protein.
(b) This variant affects one transcript (ENSSSCT00000091644.1) of ENSSSCG00000051798 gene and it has the missense consequence.
