General Structure Information
| PDB ID | 2wt8 |
| HGNC Gene Label(s) | MCPH1 |
| Structure Name | structure of the n-terminal brct domain of human microcephalin (mcph1) |
| Resolution | 1.6Å |
| Reference | AUTH M.W.RICHARDS,J.W.C.LEUNG,S.M.ROE,J.CHEN,R.BAYLISSTITL A POCKET ON THE SURFACE OF THE N-TERMINAL BRCTTITL 2 DOMAIN OF MCPH1 IS REQUIRED TO PREVENT ABNORMALTITL 3 CHROMOSOME CONDENSATION.REF J.MOL.BIOL. V. 395 908 2010REFN ISSN 0022-2836PMID 19925808DOI 10.1016/J.JMB.2009.11.029 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 91 |
| Number Of SNVs | 45 |
| Number Of Permutations | 2155 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.071 |
| p-value | 0.901 |
ClinVar
| Number Of Residues | 91 |
| Number Of SNVs | 4 |
| Number Of Permutations | 172 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.167 |
| p-value | 0.645 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 45 |
| Number Of ClinVar SNVs | 4 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.126 |
| p-value | 0.534 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
