Table 1. Clinical phenotypes associated with GARS variants in human.

	Kawakami et al. (2014)	Del Bo et al. (2006)	Antonellis et al. (2003)	Rohkamm et al. (2007)	Sivakumar et al. (2005) Antonellis et al. (2003)	Sivakumar et al. (2005) Antonellis et al. (2003)	Lee et al. (2012)	Lee et al. (2012)	Liao et al. (2015)	Liao et al. (2015)	Sivakumar et al. (2005) Antonellis et al. (2003)	Hamaguchi et al. (2010)	James et al. (2006)	James et al. (2006)	James et al. (2006)	Klein et al. (2014)	Sivakumar et al. (2005)	Dubourg et al. (2006)	McMillan at al. (2014)	This Study
GARS variants	c.815T>A p.Leu218Gln	c.2016G>A p. Asp500Asn	2094G>C p. Gly526Arg	c.688 C > T p.Ala57Val	c.730A>G p.Glu71Gly	c.904C>T p.Leu129Pro	c.598G>A p. Asp200Asn	c.794C>T p. Ser265Phe	c.598G>T p. Asp146Tyr	c.875T>G p.Met238Arg	c.1236G>C p.Gly240Arg	c.893C>T p. Pro244Leu	c.1358A>T p.Ile280Phe	c.2313G>C p.Gly598Ala	c.2260C>T p. Ser581Leu	p.Ile334Phe	p.His418Arg	c.2094 A>G p.Gly526Arg	c.1904C > T p.Ser635Leu c.1787G > A p.Arg596Gln	c.803C>T p.Thr268Ile c.1234C>T p.Arg412Cys
Inheritance	AD	AD	AD	AD	AD	AD	AD	AD	De novo	De novo	AD	ND	AD	De novo	AD	AD	AD	AD	AR	AR
Protein domain potentially affected	CD	Ins III	CD	WD	CD	CD	Ins I	Ins III	Ins I	CD	CD	CD	CD	ACBD	ACBD	Ins II	CD	CD	ACBD	CD
Phenotype	CMT2	CMT2D/ dSMA-V	dSMA-V	dHMN-V	CMT2D/ dSMA-V	dSMA-V	dHMN- V	dHMN- V	CMT2	CMT2	CMT2D	CMT2	dHMN- V	Infantile SMA	CMT2	CMT2	dSMA-V	dHMN-V	MRCD	MRCD
Cohort	1 affected	4 affected	2 affected	1 affected	17 affected	5 affected	1 affected	1 affected	1 affected	1 affected	14 affected	1 affected	1 affected	1 affected	1 affected	1 affected	1 affected	16 affected	1 affected	1 affected
Age at onset	<2 Years	10–35 Years (average)	13–26 Years (average)	12 Years	18 Years (average)	16.9 Years (average)	15Years	13Years	<6 months	2 Years	23 Years (average)	10 Years	11Years	<6 m	27 Years	24 Years	26Years (average)	23.3Years (average)	7 Years	6 Years
Consanguinity	NS	NS	NS	NS	NS	NS	NS	NS	NS	NS	NS	No	NS	NS	NS	NS	NS	No	No	No
Ethnicity	Japan	Italy	Sephardic Jewish	Ghana	Mongolia	Bulgaria	Korea	Korea	Taiwan	Taiwan	North America	Japan	UK	UK	UK	USA	UK/Australia	France	ND	UK/Australia
Clinical features	delayed onset of walking, slow running	atrophy and weakness of the hand muscles	atrophy and weakness of the hand muscles	atrophy and weakness of the hand muscles	atrophy and weakness of the hand muscles	atrophy and weakness of the hand muscles	atrophy and weakness of the hand muscles	atrophy and weakness of the hand muscles	delayed milestones, severe generalised weakness	delayed onset of walking, unsteady gait	atrophy and weakness of the hand muscles	slow running	distal limb muscle atrophy and weakness	delayed milestones, severe generalised weakness	distal limb muscle weakness	progressive unsteadiness walking	atrophy and weakness of the hand muscles	atrophy and weakness of the hand muscles or distal four limbs	leukoencephalopathy, lactic acidosis and myalgia	fatigue, exercise-lactic acidosis, mild cardiomyopathy
Functional studies	ND	ND	ND	ND	ND	ND	ND	ND	ND	ND	ND	ND	ND	ND	ND	ND	ND	ND	ND	MRC enzymology, immunoblotting for GARS protein and subunits for MRC enzyme complexes

ND = not done; NS–not stated; CD: Catalytic domain, DI: dimer interface, WD: WHEP domain, Ins I: Insertion I domain, Ins II: Insertion II domain, Ins III: Insertion III domain, ACBD: anticodon binding domain; AD: autosomal dominant, AR: autosomal recessive; CMT2: Charcot-Marie-Tooth hereditary neuropathy type 2; CMT2D: upper limb predominant CMT2; SMA: Spinal muscular atrophy; dSMA: distal SMA, dHMN: distal hereditary motor neuropathy type V, MRC: Mitochondrial respiratory chain, MRCD: Mitochondrial respiratory chain disorder.