Table 3.

Distribution of variants in ACAN regions (updated December 2021).

ACAN region	Total identified variantsa	Missense variants	Total OCD variantsb	Familial OCD variantsc	Fraction missense of all variants (%)d	Fraction OCD of all variants (%)d	Fraction fOCD of all variants (%)d
Non-globulare	24	4	2	1	16.7	8.3	4.2
G1 domain	21	10	1	1	47.6	4.8	4.8
G2 domain	15	5	1	0	33.3	6.7	0
G3 domainf	21	15	8	4	71.4	38.1	19.0
Total	81	34	12	6	42.0	14.8	7.4

Note over-representation of familial and sporadic OCD variants in G3 domain.

^aIncluding only variants with evidence for heredity and segregating with disease (see Supplemental Table 1 for additional variants).

^bACAN variants where proband presents with OCD.

^cACAN variants linked to hereditary OCD, i.e. found in proband and other variant-carrying family members.

^dPercent of total variants in the region.

^eIncluding intron 1, signal peptide, IGD (interglobular domain) and the KS and CS attachment regions.

^fOf the G3 variants, 19 (including all fOCD and OCD variants) locate in the C-type lectin repeat.