Table 1 Clinically relevant ITPA polymorphism
From: A disease spectrum for ITPA variation: advances in biochemical and clinical research
Location | SNP ID | variation | biological significance | Clinical significance | Reference |
|---|---|---|---|---|---|
c.94C > A (p.Pro32Thr) | rs1127354 | SNP | reduced expression, stability, catalysis | ADR | [40] |
c.124 + 21A > C | rs7270101 | SNP | poor splicing efficiency | ADR | [40] |
c.264-607_295 + 1267del1906 | NA | deletion | 1,874 bp deletion, frameshift, nonfunctional protein | encephalopathy | [32] |
c.359_366dupTCAGCACC (p.Gly123Serfs) | rs863225424 | duplication | Frameshift, nonfunctional protein | encephalopathy | [32] |
c.452G > A (p.Trp151Stop) | NA | nonsense | Nonsense RNA-mediated decay | encephalopathy | [32] |
c.532C > T (p.Arg178Cys) | NA | SNP | Altered substrate specificity, poor solubilitya | encephalopathy | [32], NEBa |
g.19176G > A | rs13830 | SNP | 3′UTR variation; altered mRNA metabolism/translation | TB susceptibility | [44] |