General Structure Information
| PDB ID | 1v16 |
| HGNC Gene Label(s) | BCKDHA |
| Structure Name | crosstalk between cofactor binding and the phosphorylation loop conformation in the bckd machine |
| Resolution | 1.9Å |
| Reference | AUTH J.LI,R.M.WYNN,M.MACHIUS,J.L.CHUANG,S.KARTHIKEYAN,AUTH 2 D.R.TOMCHICK,D.T.CHUANGTITL CROSS-TALK BETWEEN THIAMIN DIPHOSPHATE BINDING ANDTITL 2 PHOSPHORYLATION LOOP CONFORMATION IN HUMAN BRANCHED-CHAINTITL 3 {ALPHA}-KETO ACID DECARBOXYLASE/DEHYDROGENASEREF J.BIOL.CHEM. V. 279 32968 2004REFN ISSN 0021-9258PMID 15166214DOI 10.1074/JBC.M403611200 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 371 |
| Number Of SNVs | 102 |
| Number Of Permutations | 33312 |
| Optimal Distance Threshold | 28.0 |
| K Statistic | 0.434 |
| p-value | 0.202 |
ClinVar
| Number Of Residues | 371 |
| Number Of SNVs | 15 |
| Number Of Permutations | 5019 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.295 |
| p-value | 0.057 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 102 |
| Number Of ClinVar SNVs | 14 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.165 |
| p-value | 0.035 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
