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Table 1 Overview of FARS2 variations related to human disease

From: Neuropathy-associated Fars2 deficiency affects neuronal development and potentiates neuronal apoptosis by impairing mitochondrial function

Variations Onset Developmental delay Enzyme function OXPHOS biochemistry References
Early-onset epileptic encephalopathy
1 c.251 A > C (p.H84P); 10 m + Decreased mtPheRS abundance ↓CI and CIV in fibroblasts [17]
c.1256G > A (p.R419H)
2 c.431 A > G (p.Y144C) in infancy + Affected mtPheRS aminoacylation activity NA [5, 18, 19]
3 c.431 A > G (p.Y144C); in infancy NA NA NA [19]
c.530 T > A (p.V177D)
4 c.667 C > T (p.R223C) 5 m + NA NA [20]
5 c.925G > A (p.G309S) 3/4m + NA Combined OXPHO deficiency [21]
6 c.973G > T (p.D325Y) 6 m + Disappared mtPheRS aminoacylation activity ↓CIV defect in myoblasts [22]
7 c.973G > T (p.D325Y) 6 m + NA NA [18]
chr6:del(5,193,613– 5,281,294)
8 c.986T > C (p.I329T) 2d + Affected mtPheRS aminoacylation activity NA [5]
c.1172 A > T (p.D391V)
9 c.989G > A (p.R330H) 6w + Decreased mtPheRS abundance ↓CIV in muscle and fibroblasts [17]
c.1113G > T (p.L371F)
10 c.1156 C > G (p.R386G) 3/7m + NA ↓CI and CIV in fibroblasts [23]
chr6:del(5,262,296–5,395,849)
11 c.1255 C > T (p.R419C); in infancy + NA NA [18]
chr6:del(5,610,223– 5,726,369)
12 c.1256G > A (p.R419H) < 1 m + Decreased mtPheRS abundance ↓CI in muscle;↓CI and CIV in fibroblasts [17]
c.1269_1276del (p.S426*)
Later-onset spastic paraplegia
13 c.422G > A (p.G141E) 18/24m NA NA NA [24]
chr6:del(5,564,777–5,639,774)
14 c.424G > T (p.D142Y) 3y - Decreased mtPheRS aminoacylation activity NA [11]
15 c.461 C > T (p.A154V) 6 m + Decreased mtPheRS aminoacylation activity ↓CIV in muscle and fibroblasts;↓CI in fibroblasts [25]
c.1082 C > T (p.P361L)
16 c.476 A > C (p.H159P) 1/2y + NA NA [19]
c.1255 C > T (p.R419C)
17 c.521_523del (p.V174del) 10 m + NA NA [25]
c.1082 C > T (p.P361L)
18 c.646 C > T (p.Q216*) 2.5y - NA NA [26]
c.407 C > A (p.P136H) Decreased mtPheRS aminoacylation activity
19 c.1082 C > T (p.P361L) 5y - NA NA [25]
ex. 1–2 del
20 p.D364G teenage NA Disappared mtPheRS aminoacylation activity NA [12]
Juvenile-onset refractory epilepsy
21 c.253 C > G (p.P85A) 8y + Decrease mtPheRS stability NA [27]
c.403 C > G (p.H135D) Decrease mtPheRS aminoacylation activity
22 c.589G > A (p.V197M) 12y - NA NA [28]
c.1205T > C (p.F402S)
23 c.589G > A (p.V197M) 17y - NA CII and CIV in muscle [10]
chr6:del(5,368,803–5,369,415)
Onset unknown
24 c.467 C > T (p.T156M) NA NA NA NA [29]
25 c.1275G > C (p.L425L) NA NA NA NA [5]
c.1277 C > T (p.S426F)
26 c.905-1G > A NA NA NA NA [19]
27 c.457 A > G (p.R153G) NA NA NA NA [19]
c.925G > A (p.G309S)
  1. NA, data not available