General Structure Information
| PDB ID | 1ivh |
| HGNC Gene Label(s) | IVD |
| Structure Name | structure of human isovaleryl-coa dehydrogenase at 2.6 angstroms resolution: structural basis for substrate specificity |
| Resolution | 2.6Å |
| Reference | AUTH K.A.TIFFANY,D.L.ROBERTS,M.WANG,R.PASCHKE,AUTH 2 A.W.MOHSEN,J.VOCKLEY,J.J.KIMTITL STRUCTURE OF HUMAN ISOVALERYL-COA DEHYDROGENASE ATTITL 2 2.6 A RESOLUTION: STRUCTURAL BASIS FOR SUBSTRATETITL 3 SPECIFICITY,.REF BIOCHEMISTRY V. 36 8455 1997REFN ISSN 0006-2960PMID 9214289DOI 10.1021/BI970422U |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 387 |
| Number Of SNVs | 89 |
| Number Of Permutations | 60378 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.047 |
| p-value | 0.884 |
ClinVar
| Number Of Residues | 387 |
| Number Of SNVs | 7 |
| Number Of Permutations | 4423 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | 0.095 |
| p-value | 0.058 |
COSMIC
| Number Of Residues | 387 |
| Number Of SNVs | 5 |
| Number Of Permutations | 218 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.1 |
| p-value | 0.113 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 89 |
| Number Of ClinVar SNVs | 7 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | -0.215 |
| p-value | 0.045 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 89 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.088 |
| p-value | 0.066 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
