TABLE 1.
ERAP1 variants used in this study
Residues associated with increased risk to AS are underlined. Residues in italics are altered relative to the reference sequence (NCBI accession number NP-057526), but have not been reported to influence AS susceptibility. Arg-528/Asp-575 is termed wild type because this was the starting variant from which the other three variants were generated by site-directed mutagenesis. SNP indicates single nucleotide polymorphism.
| SNP | Polymorphisma | R528/D575 (wild type) | Lys-528/Asp-575 | Arg-528/Asn-575 | Lys-528/Asn575 | C1Rb | WE-Ib |
|---|---|---|---|---|---|---|---|
| rs26653 | R127P | Arg | Arg | Arg | Arg | Pro | Pro |
| rs27895 | G346D | Asp | Asp | Asp | Asp | Gly | Gly |
| rs2287987 | M349V | Met | Met | Met | Met | Met | Val |
| rs78649652 | G514R | Arg | Arg | Arg | Arg | Gly | Gly |
| rs30187 | K528R | Arg | Lys | Arg | Lys | Arg | Arg |
| rs10050860 | D575N | Asp | Asp | Asn | Asn | Asp | Asn |
| rs17482078 | R725Q | Arg | Arg | Arg | Arg | Arg | Gln |
| rs27044 | Q730E | Glu | Glu | Glu | Glu | Glu | Glu |
a Naturally occurring amino acid changes are relative to the reference sequence.
b The sequence of ERAP1 from these cell lines was reported previously (10).