Table 1.

Mutations identified in PRPS1 leading to altered enzyme function.

Disorder	Gene Mutation	Amino Acid Change	Effect on PRPS1 Function	Reference
PRS-1 Superactivity	c.154G>C	p.D52H	Gain of Function	Becker et al. [13]
PRS-1 Superactivity	c.385C>A	p.L129I	Gain of Function	Becker et al. [13]
PRS-1 Superactivity	c.341A>G	p.N114S	Gain of Function	Roessler et al. [14]
PRS-1 Superactivity	c.547G>C	p.D182H	Gain of Function	Roessler et al. [14]
PRS-1 Superactivity	c.569C>T	p.A189V	Gain of Function	Becker et al. [15]
PRS-1 Superactivity	c.578A>T	p.H192L	Gain of Function	García-Pavía et al. [16]
PRS-1 Superactivity	c.579C>G	p.H192Q	Gain of Function	Becker et al. [13]
PRS-1 Superactivity and Arts Syndrome	c.424G>C	p.V142L	Gain of Function	Moran et al. [17]
DFN2	c.193G>A	p.D65N	Loss of Function	Liu et al. [5]
DFN2	c.259G>A	p.A87T	Loss of Function	Liu et al. [5]
DFN2	c.869T>C	p.I290T	Loss of Function	Liu et al. [5]
DFN2	c.916G>A	p.G306R	Loss of Function	Liu et al. [5]
DFN2 and CMTX5	c.337G>T	p.All3S	Loss of Function	Robusto et al. [18]
DFN2 and CMTX6	c.343A>G	p.M115V	Loss of Function	Robusto et al. [18]
DFN2 and CMTX7	c.925G>T	p.V309F	Loss of Function	Robusto et al. [18]
DFN2 and CMTX8	c.362C>G	p.A121G	Loss of Function	Park et al. [19]
CMTX5	c.129A>C	p.E43D	Loss of Function	Kim et al. [20]
CMTX5	c.344T>C	p.M115T	Loss of Function	Kim et al. [20]
CMTX5 and Arts syndrome	c.830A>C	p.Q277P	Loss of Function	Synofzik et al. [21]
Arts Syndrome	c.398A>C	p.Q133P	Loss of Function	de Brouwer et al. [22]
Arts Syndrome	c.455T>C	p.L152P	Loss of Function	de Brouwer et al. [22]
Arts Syndrome	c.856C>T	p.R196W	Loss of Function	Al-Maawali et al. [23]