MC1R Gene Variants and Their Relationship with Coat Color in South American Camelids

Table 2

Mutations observed in alpacas, llamas, guanacos, and vicuñas.

Observed SNP	Amino acid change	Amino acid effect	Type of substitution	References
c.72G > C	Leu	N/A	Synonym	[26]
c.82A > G	Thr/Ala	Polar to nonpolar	Nonsynonym	[19, 26]
c.92C > T	Thr/Met	Polar to nonpolar	Nonsynonym
c.126T > C	Asp	N/A	Synonym
c.224-227del	Change in the reading frame	Disp	Nonsynonym	[19]
c.239-243ins	Change in the reading frame	Disp.	Nonsynonym	This study
c.243C > T	Ala	N/A	Synonym	This study
c.259A > G	Val/Met	Polar to nonpolar	Nonsynonym	[19, 26]
c.265A > G	Met/Val	Polar to nonpolar	Nonsynonym	[26]
c.354T > C	Asn	N/A	Synonym	[19, 26]
c.376G > A	Gly/Ser	Polar to polar	Non synonym
c.383T > C	Met/Thr	Polar to nonpolar	Nonsynonym	[26]
c.618G > A	Leu	N/A	Synonym	[19, 26]
c.629Tdel	Change in the reading frame	Desp	Nonsynonym	This study
c.901C > T	Arg/Cys	Changed to polar	Nonsynonym	[19, 26, 27]
c.933G > A	Glu	N/A	Synonym	[19, 26]
5′c.−42C > G	N/A	N/A	N/A	This study
3′ + 5T > C	N/A	N/A	N/A	[26]
3′ + 170G > C	N/A	N/A	N/A	This study

SNP: single-nucleotide polymorphism; Disp.: displacement; del: deletion; ins: insertion. Five new polymorphisms contributed to the study of the MC1R gene.