Table 1B PRODH genetic variants, detected in our patient.

RefSNP ID	Nucleic acid	Amino acid	Location	Allele frequency in controls (%)	ClinVar	PolyPhen-2 (Score)	Human Splicing Finder
rs2008720	c.56C>A	p.P19Q	Exon 2	83.68^a,b, 29^c	−	Benign	−
rs4819756	c.553T>C	p.W185R	Exon 5	96.72^a,b, 48^c, 33.14^d	−	Benign	−
rs1808320	c.991T>C	p.L331=	Exon 9	83.74^a,b	−	−	probably no impact on splicing
rs1076466	c.1105–14C>T	−	Intron 10	80.89^a,b, 39^c	−	−	probably no impact on splicing
rs2870984	c.1397C>T	p.T466M	Exon 12	2.36^a,b, 1.40^d	Conflicting interpretations of pathogenicity	Possibly damaging (0.943)	−
rs2870983	c.1414G>A	p.A472T	Exon 12	3.96^a,b, 5.31^d, 10.29^e, 7.02^f	−	Benign	−
rs455072	c.1515T>C	p.F505=	Exon 13	92.06^a,b	−	−	probably no impact on splicing
rs450046	c.1562G>A	p.R521Q	Exon 14	96.11^a,b, 5.37^d	−	Possibly damaging (0.507)	−
rs372055	c.1741C>T	p.L581=	Exon 15	79.59^a,b, 28.49^d	Benign	−	probably no impact on splicing

The variants which detected in our patient were all of homozygous. The c.1562 G > A (p.R521Q) was found in family members including the patient’s father, mother, brother, and sister as homozygous. They did not present with hyperprolinemia.
^aTadaka S, Saigusa D, Motoike IN, Inoue J, Aoki Y, Shirota M et al. jMorp: Japanese multi omics reference panel. Nucleic Acids Res 2018; 46: D551-D557.
^bTadaka S, Katsuoka F, Ueki M, Kojima K, Makino S, Saito S et al. 3.5KJPNv2, An allele frequency panel of 3,552 Japanese Individuals including the X chromosome. Hum Genome Var. 2019; 6: 28.
^cWilliams HJ, Williams N, Spurlock G, Norton N, Zammit S, Kirov G et al. Detailed analysis of PRODH and PsPRODH reveals no association with schizophrenia. Am J Med Genet B 2003; 120: 42–46.
^dOta VK, Bellucco FT, Gadelha A, Santoro ML, Noto C, Christofolini DM et al. PRODH polymorphisms, cortical volumes and thickness in schizophrenia. PLoS ONE 2014; 9: e87686.
^eJacquet H, Raux G, Thibaut F, Hecketsweiler B, Houy E, Demilly C et al. PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. Hum Mol Genet 2002; 11: 2243–2249.
^fJacquet H, Demily C, Houy E, Hecketsweiler B, Raux G, Lerond J et al. Hyperprolinemia is a risk factor for schizoaffective disorder. Mol Psychiatry 2005; 10: 479–485.

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