Table 1.

HARS variants identified in patients with peripheral neuropathy

Amino acid changea	Detection in gnomADb	dbSNP accession no.	Position in yeast HTS1c	Reference
p.Thr132Ile	Not detected	None	p.Thr131Ile	(Safka Brozkova, et al., 2015)
p.Pro134His	Not detected	None	p.Pro133His	(Safka Brozkova, et al., 2015)
p.Arg137Gln	20 / 246,154	rs191391414	p.Arg136Gln	(Vester, et al., 2013)
p.Val155Gly	Not detected	None	p.Val154Gly	This study
p.Asp175Glu	Not detected	None	p.Asp174Glu	(Safka Brozkova, et al., 2015)
p.Tyr330Cys	Not detected	None	p.Tyr330Cys	This study
p.Ser356Asn	5 / 277,222	rs144322728	p.Ser370Asn	This study
p.Asp364Tyr	Not detected	None	p.Asp378Tyr	(Safka Brozkova, et al., 2015)

^aHuman amino acid positions are relative to GenBank Accession number NP_002100.2

^bhttp://gnomad.broadinstitute.org

^cYeast amino acid coordinates correspond to GenBank accession number EDN61168.1