General Structure Information
| PDB ID | 2r0o |
| HGNC Gene Label(s) | ACTN4 |
| Structure Name | crystal structure of the actin-binding domain of human alpha-actinin-4 mutant(k255e) |
| Resolution | 2.2Å |
| Reference | AUTH S.H.LEE,A.WEINS,D.B.HAYES,M.R.POLLAK,R.DOMINGUEZTITL CRYSTAL STRUCTURE OF THE ACTIN-BINDING DOMAIN OFTITL 2 ALPHA-ACTININ-4 LYS255GLU MUTANT IMPLICATED IN FOCALTITL 3 SEGMENTAL GLOMERULOSCLEROSIS.REF J.MOL.BIOL. V. 376 317 2008REFN ISSN 0022-2836PMID 18164029DOI 10.1016/J.JMB.2007.11.084 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 225 |
| Number Of SNVs | 18 |
| Number Of Permutations | 8826 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.059 |
| p-value | 0.19 |
ClinVar
| Number Of Residues | 225 |
| Number Of SNVs | 3 |
| Number Of Permutations | 219 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.667 |
| p-value | 0.008 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 18 |
| Number Of ClinVar SNVs | 3 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.634 |
| p-value | 0.006 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
