General Structure Information
| PDB ID | 2ozl |
| HGNC Gene Label(s) | PDHA1 |
| Structure Name | human pyruvate dehydrogenase s264e variant |
| Resolution | 1.9Å |
| Reference | AUTH F.SEIFERT,E.M.CISZAK,L.G.KOROTCHKINA,R.GOLBIK,AUTH 2 M.SPINKA,P.M.DOMINIAK,S.SIDHU,J.BRAUER,M.S.PATEL,AUTH 3 K.TITTMANNTITL PHOSPHORYLATION OF SERINE 264 IMPEDES ACTIVE SITETITL 2 ACCESSIBILITY IN THE E1 COMPONENT OF THE HUMANTITL 3 PYRUVATE DEHYDROGENASE MULTIENZYME COMPLEXREF BIOCHEMISTRY V. 46 6277 2007REFN ISSN 0006-2960PMID 17474719DOI 10.1021/BI700083Z |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 361 |
| Number Of SNVs | 34 |
| Number Of Permutations | 24187 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.07 |
| p-value | 0.63 |
ClinVar
| Number Of Residues | 361 |
| Number Of SNVs | 13 |
| Number Of Permutations | 8528 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.115 |
| p-value | 0.061 |
COSMIC
| Number Of Residues | 361 |
| Number Of SNVs | 4 |
| Number Of Permutations | 112 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.5 |
| p-value | 0.042 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 34 |
| Number Of ClinVar SNVs | 14 |
| Optimal Distance Threshold | 22.0 |
| K Statistic | 0.176 |
| p-value | 0.23 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 34 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | -0.086 |
| p-value | 0.901 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
