General Structure Information
| PDB ID | 2g4c |
| HGNC Gene Label(s) | POLG2 |
| Structure Name | crystal structure of human dna polymerase gamma accessory subunit |
| Resolution | 3.15Å |
| Reference | AUTH L.FAN,S.KIM,C.L.FARR,K.T.SCHAEFER,K.M.RANDOLPH,AUTH 2 J.A.TAINER,L.S.KAGUNITITL A NOVEL PROCESSIVE MECHANISM FOR DNA SYNTHESISTITL 2 REVEALED BY STRUCTURE, MODELING AND MUTAGENESIS OFTITL 3 THE ACCESSORY SUBUNIT OF HUMAN MITOCHONDRIAL DNATITL 4 POLYMERASEREF J.MOL.BIOL. V. 358 1229 2006REFN ISSN 0022-2836PMID 16574152DOI 10.1016/J.JMB.2006.02.073 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 397 |
| Number Of SNVs | 112 |
| Number Of Permutations | 67310 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.213 |
| p-value | 0.478 |
ClinVar
| Number Of Residues | 397 |
| Number Of SNVs | 3 |
| Number Of Permutations | 367 |
| Optimal Distance Threshold | 29.0 |
| K Statistic | 0.0 |
| p-value | 0.315 |
COSMIC
| Number Of Residues | 397 |
| Number Of SNVs | 5 |
| Number Of Permutations | 455 |
| Optimal Distance Threshold | 28.0 |
| K Statistic | 0.2 |
| p-value | 0.344 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 112 |
| Number Of ClinVar SNVs | 3 |
| Optimal Distance Threshold | 27.0 |
| K Statistic | -0.381 |
| p-value | 0.234 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 112 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 42.0 |
| K Statistic | -0.365 |
| p-value | 0.221 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
