General Structure Information
| PDB ID | 2zw3 |
| HGNC Gene Label(s) | GJB2 |
| Structure Name | structure of the connexin-26 gap junction channel at 3.5 angstrom resolution |
| Resolution | 3.5Å |
| Reference | AUTH S.MAEDA,S.NAKAGAWA,M.SUGA,E.YAMASHITA,A.OSHIMA,AUTH 2 Y.FUJIYOSHI,T.TSUKIHARATITL STRUCTURE OF THE CONNEXIN 26 GAP JUNCTION CHANNELTITL 2 AT 3.5 A RESOLUTIONREF NATURE V. 458 597 2009REFN ISSN 0028-0836PMID 19340074DOI 10.1038/NATURE07869 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 201 |
| Number Of SNVs | 73 |
| Number Of Permutations | 47686 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.064 |
| p-value | 0.343 |
ClinVar
| Number Of Residues | 201 |
| Number Of SNVs | 37 |
| Number Of Permutations | 29399 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.336 |
| p-value | 0.045 |
COSMIC
| Number Of Residues | 201 |
| Number Of SNVs | 5 |
| Number Of Permutations | 19 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.2 |
| p-value | 0.282 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 73 |
| Number Of ClinVar SNVs | 32 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | -0.007 |
| p-value | 0.61 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 73 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.486 |
| p-value | 0.041 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
