Table 1.

Summary of missense mutations and rare variants in GRIN2D/GluN2D NMDARs

	Gene	Genotype	Protein	Location	Phenotype	References
1	GRIN2D	c.1345G>A	p.D449N	ABD (S1)	Epi, ID	Tsuchida et al., Clinical Genetics 2018
2	GRIN2D	c.1396C>G	p.L466V	ABD (S1)	SCZ	Tarabeux et al., Transl Psychiatry 2011
3	GRIN2D	c.1718C>T	p.S573F	pre-M1	Epi; ID	XiangWei et al., Brain 2019
4	GRIN2D	c.1774A>C	p.M592L	M1	ASD	Tarabeux et al., Transl Psychiatry 2011
5	GRIN2D	c.1999G>A	p.V667I	M3	Epi; ID; 3 pts	Li et al., Am J Hum Genet. 2016; XiangWei et al., Brain 2019
6	GRIN2D	c.2008C>T	p.L670F	M3	Epi, ID; 2 pts	XiangWei et al., Brain 2019
7	GRIN2D	c.2023G>A	p.A675T	M3	Epi; ID	XiangWei et al., Brain 2019
8	GRIN2D	c.2033C>A	p.A678D	M3	Epi; ID	XiangWei et al., Brain 2019
9	GRIN2D	c.2043G>C	p.M681I	M3	Epi, ID	Tsuchida et al., Clinical Genetics 2018
10	GRIN2D	c.2080A>C	p.S694R	ABD (S2)	Epi, ID	Tsuchida et al., Clinical Genetics 2018
11	GRIN2D	c.2197A>G	p.M733V	ABD (S2)	SCZ	Tarabeux et al., Transl Psychiatry 2011
12	GRIN2D	c.2701G>A + c.2702C>T	p.A901I	CTD	SCZ	Tarabeux et al., Transl Psychiatry 2011
13	GRIN2D	c.2776G>A	p.A926T	CTD	ASD	Tarabeux et al., Transl Psychiatry 2011
14	GRIN2D	c.2944G>C	p.A982P	CTD	SCZ	Tarabeux et al., Transl Psychiatry 2011
15	GRIN2D	c.3812C>T	p.S1271L	CTD	Epi; ID	XiangWei et al., Brain 2019
16	GRIN2D	c.3937C>T	p.R1313W	CTD	Epi, ID	XiangWei et al., Brain 2019

ASD: Autism Spectrum Disorder, Epi: epilepsy/seizures, ID: Intellectual Disability, SCZ: Schizophrenia

ATD: amino-terminal domain, ABD: agonist-binding domain, TMD: transmembrane domains (M1, M2, M3, M4), CTD: carboxy-terminal domain