General Structure Information
| PDB ID | 1d5f |
| HGNC Gene Label(s) | UBE3A |
| Structure Name | structure of an e6ap-ubch7 complex: insights into the ubiquitination pathway |
| Resolution | 2.8Å |
| Reference | AUTH L.HUANG,E.KINNUCAN,G.WANG,S.BEAUDENON,P.M.HOWLEY,AUTH 2 J.M.HUIBREGTSE,N.P.PAVLETICHTITL STRUCTURE OF AN E6AP-UBCH7 COMPLEX: INSIGHTS INTOTITL 2 UBIQUITINATION BY THE E2-E3 ENZYME CASCADE.REF SCIENCE V. 286 1321 1999REFN ISSN 0036-8075PMID 10558980DOI 10.1126/SCIENCE.286.5443.1321 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 350 |
| Number Of SNVs | 29 |
| Number Of Permutations | 7948 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.049 |
| p-value | 0.307 |
ClinVar
| Number Of Residues | 350 |
| Number Of SNVs | 9 |
| Number Of Permutations | 2340 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.139 |
| p-value | 0.955 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 29 |
| Number Of ClinVar SNVs | 8 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.108 |
| p-value | 0.875 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
