Review Article
Association of PRPS1 Mutations with Disease Phenotypes
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] |
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