Table 1.
Mutation findings for 30 patients with T-OPLL by WGS
| Gene | SNP ID | Chromosome | Nucleotide change | Protein change | 1000G (EAS) | SIFT | PP2 | MutationTaster | GERR++ |
|---|---|---|---|---|---|---|---|---|---|
| COL6A1 | rs201153092 | 21 | c.1534G>A | p.Gly512Ser | 0 | D | D | D | R |
| COL6A1 | rs13051496 | 21 | c.2669C>T | p.Ser890Leu | 0 | T | B | D | R |
| COL6A1 | rs151158105 | 21 | c.1298G>A | p.Arg433Gln | 0 | D | B | N | R |
| IL17RC | rs199772854 | 3 | c.2275C>A | p.Leu759Ile | 0 | D | D | N | R |
| IL17RC | rs76999397 | 3 | c.1908G>A | p.Ala636Ala | 0.00378 | D | B | N | R |
| IL17RC | rs189013166 | 3 | c.2238G>A | p.Gly746Gly | 0 | D | B | N | R |
1000G (EAS), 1000 Genomes (Asian); SIFT (D deleterious, T tolerated); PP2, Polyphen-2 (D probably damaging, P possibly damaging, B benign); MutationTaster (D disease causing, N polymorphism); GERP++ (R rejected substitutions, S substitutions)