Table 3.
ERAP1 and ERAP2 studied polymorphisms.
| SNP | SNP Variation |
Amino Acid Change | Gene | Locus | Potential Effect | Assay ID |
|---|---|---|---|---|---|---|
| rs26653 | G > C | Pro127Arg | ERAP1 | 5q15 | Presumably indirectly affects specificity and enzymatic activity [22] | C__794818_30 |
| rs2287987 | T > C | Met349Val | ERAP1 | 5q15 | Interactions with the substrate [22] | C__3056893_20 |
| rs30187 | C > T | Arg528Lys | ERAP1 | 5q15 | Enzymatic activity, expression level [20] | C__3056885_10 |
| rs27044 | C > G | Gln730Glu | ERAP1 | 5q15 | Enzymatic activity, substrate length preference [22] | C__3056870_10 |
| rs26618 | T > C | Ile276Met | ERAP1 | 5q15 | Affects efficiency of a precursor peptide trimming for the HLA-C*05-bound epitope [23] | C__3056894_10 |
| rs6861666 | A > G | - |
ERAP1/
ERAP2 |
5q15 | rs6861666 in 100% LD with rs75862629 which influences the expression level of ERAP2 and ERAP1 [24] | C__29091789_20 |
| rs2248374 | A > G | - | ERAP2 | 5q15 | Lack of expression of functional forms of the enzyme [20] | C__25649529_10 |
SNP—single nucleotide polymorphism; LD—linkage disequilibrium.