General Structure Information
| PDB ID | 2a1x |
| HGNC Gene Label(s) | PHYH |
| Structure Name | human phytanoyl-coa 2-hydroxylase in complex with iron and 2- oxoglutarate |
| Resolution | 2.5Å |
| Reference | AUTH M.A.MCDONOUGH,K.L.KAVANAGH,D.BUTLER,T.SEARLES,U.OPPERMANN,AUTH 2 C.J.SCHOFIELDTITL STRUCTURE OF HUMAN PHYTANOYL-COA 2-HYDROXYLASE IDENTIFIESTITL 2 MOLECULAR MECHANISMS OF REFSUM DISEASEREF J.BIOL.CHEM. V. 280 41101 2005REFN ISSN 0021-9258PMID 16186124DOI 10.1074/JBC.M507528200 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 253 |
| Number Of SNVs | 78 |
| Number Of Permutations | 37830 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.032 |
| p-value | 0.787 |
ClinVar
| Number Of Residues | 253 |
| Number Of SNVs | 4 |
| Number Of Permutations | 799 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.333 |
| p-value | 0.022 |
COSMIC
| Number Of Residues | 253 |
| Number Of SNVs | 4 |
| Number Of Permutations | 43 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.167 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 78 |
| Number Of ClinVar SNVs | 4 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.461 |
| p-value | 0.013 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 78 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | -0.141 |
| p-value | 0.605 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
