General Structure Information
| PDB ID | 3i2b |
| HGNC Gene Label(s) | PTS |
| Structure Name | the crystal structure of human 6 pyruvoyl tetrahydrobiopterin synthase |
| Resolution | 2.3Å |
| Reference | AUTH E.UGOCHUKWU,R.COCKING,E.PILKA,W.W.YUE,J.E.BRAY,A.CHAIKUAD,AUTH 2 T.KROJER,J.MUNIZ,U.OPPERMANNTITL THE CRYSTAL STRUCTURE OF HUMAN 6 PYRUVOYLTITL 2 TETRAHYDROBIOPTERIN SYNTHASEREF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 138 |
| Number Of SNVs | 27 |
| Number Of Permutations | 16940 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.108 |
| p-value | 0.729 |
ClinVar
| Number Of Residues | 138 |
| Number Of SNVs | 8 |
| Number Of Permutations | 4665 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.0 |
| p-value | 0.941 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 27 |
| Number Of ClinVar SNVs | 8 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | -0.057 |
| p-value | 0.827 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
