General Structure Information
| PDB ID | 3hy8 |
| HGNC Gene Label(s) | PNPO |
| Structure Name | crystal structure of human pyridoxine 5-phosphate oxidase r229w mutant |
| Resolution | 2.5Å |
| Reference | AUTH F.N.MUSAYEV,M.L.DI SALVO,M.A.SAAVEDRA,R.CONTESTABILE,AUTH 2 M.S.GHATGE,A.HAYNES,V.SCHIRCH,M.K.SAFOTITL MOLECULAR BASIS OF REDUCED PYRIDOXINE 5-PHOSPHATE OXIDASETITL 2 CATALYTIC ACTIVITY IN NEONATAL EPILEPTIC ENCEPHALOPATHYTITL 3 DISORDERREF J.BIOL.CHEM. V. 284 30949 2009REFN ISSN 0021-9258PMID 19759001DOI 10.1074/JBC.M109.038372 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 211 |
| Number Of SNVs | 52 |
| Number Of Permutations | 26724 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.017 |
| p-value | 0.893 |
ClinVar
| Number Of Residues | 211 |
| Number Of SNVs | 5 |
| Number Of Permutations | 1775 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | 0.1 |
| p-value | 0.113 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 52 |
| Number Of ClinVar SNVs | 5 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | -0.161 |
| p-value | 0.144 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
