. Author manuscript; available in PMC: 2019 Jun 14.

Published in final edited form as: Nature. 2018 Jul 25;560(7717):238–242. doi: 10.1038/s41586-018-0363-0

Table 1. Summarized data from patients with PNPT1 mutations.

Patient	PNPT1 mutation	Amino acid change	Effect on PNPase	Outcome	IFNα levels in CSF (fg l⁻¹)^a	Neopterin levels in CSF^b
1	G407A Homozygous	R136H	Abolishes active site	Died aged 2 years	NA	NA
2	T208C G2137T Heterozygous	S70P D713Y	Reduced protein level	Alive at age 1 year	603	101
3	G1495C G1519T Heterozygous	G499R A507S	Reduced protein level	Alive at age 7 years	ND	ND
4	A1160G Homozygous¹⁴	Q387R	Trimerization defective; reduced protein level	Alive at age13 years	ND	ND

NA, not available; ND, not determined. See also Extended Data Table 1.

IFNα normal range is <1 fg l⁻¹.

Neopterin normal range is 8−43 nmol l⁻¹.