Table 2.
Reported mutations in PTPRQ
| Origin | Pathogenic variant | Protein effect | Domain | Exon | Type of mutation | Inheritance pattern | Zygosity |
|---|---|---|---|---|---|---|---|
| Palestinian | c.1285C>T | p.Gln429Stop | EC | 9 | Nonsense | AR | Homozygous |
| Dutch | c.1491T>A | p.Tyr497Stop | EC | 10 | Nonsense | AR | Homozygous |
| Moroccan | c.1369A>G | p.Ala457Gly | EC | 10 | Missense | AR | Homozygous |
| Chinese | c.3125A>G | p.Asp1042Gly | EC | 20 | Missense | AR | Homozygous |
| Chinese | c.5981A>G | p.Glu1994Gly | EC | 37 | Missense | AR | Homozygous |
| Japanese | c.166C>G | p.Pro56Ala | EC | 2 | Missense | AR | Compoundheterozygous |
| Japanese | c.1261C>T | p.Arg421Stop | EC | 9 | Nonsense | AR | Homozygous |
| Japanese | c.4046T>C | p.Met1349Thr | EC | 25 | Missense | AR | Compoundheterozygous |
| Japanese | c.6453+3delA | - | CP | 41 | Splice site | AR | Compoundheterozygous |
| Iranian | c.2599T>C | Ser867Pro | EC | 17 | Missense | AR | Homozygous |
CP; Cytoplasmic domain, EC; Extracellular domain, and AR; Autosomal recessive.