. Author manuscript; available in PMC: 2018 Feb 1.

Published in final edited form as: Mov Disord. 2016 Oct 18;32(2):287–291. doi: 10.1002/mds.26824

Table 1.

PTRHD1 mutations in Families with ID and parkinsonism

Gene	Nucleotide Change	Amino Acid Change	Protein Domain	Pathogenicity Predictions					Iranian Control Population	ExAC Browser	References
Gene	Nucleotide Change	Amino Acid Change	Protein Domain	SIFT	Polyphen2	MutPred	SNPs&GO	CADD- phred	Iranian Control Population	ExAC Browser	References
PTRHD1 (C2orf29)	c.155G>A	p.Cys52Tyr	PTH2	Deleterious	Probably damaging	0.749	0.604	34	0/208^*	1 / 119394	Jaberi at al, 2016
PTRHD1 (C2orf29)	c.157C>T	p.His53Tyr	PTH2	Deleterious	Deleterious	0.783	0.764	37	0/1008	Not Found	This study

The mutation identified in this study is shown in bold. PTH2 stands for peptidyl-tRNA hydrolase 2.

These controls individuals were sequenced in this study as Jaberi and colleagues did not report control data for this specific mutation.