General Structure Information
| PDB ID | 1×80 |
| HGNC Gene Label(s) | BCKDHB |
| Structure Name | crystal structure of the human mitochondrial branched-chain alpha- ketoacid dehydrogenase |
| Resolution | 2.0Å |
| Reference | AUTH R.M.WYNN,M.KATO,M.MACHIUS,J.L.CHUANG,J.LI,D.R.TOMCHICK,AUTH 2 D.T.CHUANGTITL MOLECULAR MECHANISM FOR REGULATION OF THE HUMANTITL 2 MITOCHONDRIAL BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASETITL 3 COMPLEX BY PHOSPHORYLATIONREF STRUCTURE V. 12 2185 2004REFN ISSN 0969-2126PMID 15576032DOI 10.1016/J.STR.2004.09.013 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 329 |
| Number Of SNVs | 73 |
| Number Of Permutations | 35932 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.198 |
| p-value | 0.034 |
ClinVar
| Number Of Residues | 329 |
| Number Of SNVs | 15 |
| Number Of Permutations | 7091 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.314 |
| p-value | 0.529 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 73 |
| Number Of ClinVar SNVs | 15 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | -0.033 |
| p-value | 0.978 |