Table 4.
In silico studies of the seven novel pathogenic variants found with IPN‐NGS
| Genes | Mutations | Amino Acid change | Polyphen | SIFT | Mutation Taster | UMD‐Predictor | ExAC |
|---|---|---|---|---|---|---|---|
| ABHD12 | c.379_385delAACTACTinsGATTCCTTATATACCATTGTAGTCTTACTGCTTTTGGTGAACACA | p.(Asn127Aspfs*23) | / | / | / | / | Not found |
| MPZ | c.418T>C | p.(Ser140Pro) | 0.903 possibly damaging | 0.03 deleterious | deleterious | 87 pathogenic | Not found |
| c.437T>C | p.(Val146Ala) | 0.767 possibly damaging | 0.01 deleterious | deleterious | 75 pathogenic | Not found | |
| NEFL | c.269A>G | p.(Glu90Gly) | 0.999 probably damaging | 0 deleterious | / | / | Not found |
| PRPS1 | c.202A>T | p.(Met68Leu) | 0.208 benign | 0.06 tolerated | deleterious | 72 probably pathogenic | Not found |
| c.3377T>C | p.(Leu1126Pro) | 0.992 probably damaging | 0 deleterious | deleterious | 84 pathogenic | Not found | |
| SH3TC2 | c.3617C>A | p.(Ala1206Asp) | 0.759 possibly damaging | 0 deleterious | deleterious | 84 pathogenic | Not found |