Table 3.
Validated non‐synonymous KLK SNPs in dbSNP
| Gene | dbSNP ID | SNP | Position in codon | Amino acid changea | Exon | Predicted peptide locationb |
|---|---|---|---|---|---|---|
| KLK1 | rs5515 | G/A | 2 | Arg77His | 3 | Mature |
| rs5516 | G/C | 1 | Glu145Gln | 3 | Mature | |
| rs5517 | A/G | 1 | Lys186Glu | 4 | Mature | |
| rs5518 | T/A | 2 | Val193Glu | 4 | Mature | |
| KLK2 | rs198977 | C/T | 1 | Arg250Trp | 5 | Mature |
| KLK3 | rs2271092 | G/A | 1 | Glu32Lys | 2 | Mature |
| rs2003783 | C/A | 1 | Leu132Ile | 3 | Mature | |
| rs17632542 | T/C | 2 | Ile179Thr | 4 | Mature | |
| KLK4 | rs1654551 | T/G | 1 | Ser22Ala | 2 | Signal peptide |
| rs2569527 | C/A | 3 | His197Gln | 4 | Mature | |
| KLK5 | rs182854 | A/G | 1 | Asn153Asp | 3 | Mature |
| rs2232534 | A/G | 1 | Ile172Val | 3 | Mature | |
| rs2232535 | G/C | 2 | Ser210Thr | 4 | Mature | |
| KLK8 | rs16988799 | G/A | 1 | Val154Ile | 3 | Mature |
| KLK10 | rs3745535 | T/G | 1 | Ser50Ala | 2 | Mature |
| rs2075690 | T/C | 2 | Leu149Pro | 3 | Mature | |
| KLK11 | rs2288892 | G/A | 1 | Ala32Thrc | 1 | Signal peptide |
| rs3745539 | G/A | 2 | Gly17Glu | 2 | Signal peptide | |
| rs1048328 | C/T | 1 | Arg134Cys | 3 | Mature | |
| KLK14 | rs2569491 | C/T | 1 | His29Tyr | 3 | Mature |
| KLK15 | rs7247190 | C/T | 1 | Pro128Serd | 3 | Mature |
| rs3212805 | C/T | 2 | Pro134Leud | 3 | Mature | |
| rs10403407 | C/T | 1 | Leu163Phed | 4 | Mature | |
a
Amino acid numbering refers to the sequences for isoform 1 or A of each KLK pre‐pro‐protein, unless otherwise noted.
b
Predictions based on Yousef and Diamandis (2001).
c
Amino acid numbering refers to KLK11 isoform 2 (GenBank accession NP_659196). In isoform 1, this SNP is in an untranslated region.
d
Amino acid numbering refers to KLK15 isoform 4 (GenBank accession NP_059979).