General Structure Information
| PDB ID | 4ndg |
| HGNC Gene Label(s) | APTX |
| Structure Name | human aprataxin (aptx) bound to rna-dna and zn – adenosine vanadate transition state mimic complex |
| Resolution | 2.54Å |
| Reference | AUTH P.TUMBALE,J.S.WILLIAMS,M.J.SCHELLENBERG,T.A.KUNKEL,AUTH 2 R.S.WILLIAMSTITL APRATAXIN RESOLVES ADENYLATED RNA-DNA JUNCTIONS TO MAINTAINTITL 2 GENOME INTEGRITY.REF NATURE V. 506 111 2013REFN ISSN 0028-0836PMID 24362567DOI 10.1038/NATURE12824 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 177 |
| Number Of SNVs | 48 |
| Number Of Permutations | 14252 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.126 |
| p-value | 0.146 |
ClinVar
| Number Of Residues | 177 |
| Number Of SNVs | 4 |
| Number Of Permutations | 538 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.333 |
| p-value | 0.09 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 48 |
| Number Of ClinVar SNVs | 4 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.301 |
| p-value | 0.06 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
