Skip to main content

Table 1 Mutation findings for 30 patients with T-OPLL by WGS

From: Association of IL17RC and COL6A1 genetic polymorphisms with susceptibility to ossification of the thoracic posterior longitudinal ligament in Chinese patients

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

  1. 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)