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. Author manuscript; available in PMC: 2022 Oct 1.
Published in final edited form as: Ann Rheum Dis. 2022 Jun 22;81(10):1465–1473. doi: 10.1136/annrheumdis-2022-222497

Table 1.

NOD/RIPK2 Pathway Variants Identified in Independent Osteoarthritis Families

Gene OA Phenotype (Family) Variant Minor Allele Frequency Protein Domain Affected by Variant
NOD1 Finger Interphalangeal Joint OA (FIJ744) c.G2114A:p.R705Q 0.0008 Leucine Rich Repeat Domain
NOD2 1st MTP Joint OA (UUHR2) c.C2465T:p.A822V 0.00007 Leucine Rich Repeat Domain
NOD2 Finger Interphalangeal Joint OA (FIJ7) c.G247A:p.A83T 0.00008  Caspase Activation and Recruitment Domain
IKBKB Glenohumeral OA (SA735) c.G1663A:p.G555R 0.00008 Scaffold Dimerization Domain
CARD9 Finger Interphalangeal Joint OA (FIJ9) c.G722A:p.R241Q 0.00005 Structural Maintenance of Chromosomes
CHUK 1st MTP Joint OA (MTP25) c.A376T:p.S126C 0.0008 Kinase Domain
RIPK2* 1st MTP Joint OA (UUHR1) c.A310G:pN104D 0.0004 Kinase Domain
*

- Previously described in Jurynec, 201811.