General Structure Information
| PDB ID | 2l4r |
| HGNC Gene Label(s) | KCNH2 |
| Structure Name | nmr solution structure of the n-terminal pas domain of herg |
| Resolution | -1.0Å |
| Reference | AUTH Q.LI,S.GAYEN,A.S.CHEN,Q.HUANG,M.RAIDA,C.KANGTITL NMR SOLUTION STRUCTURE OF THE N-TERMINAL DOMAIN OF HERG ANDTITL 2 ITS INTERACTION WITH THE S4-S5 LINKER.REF BIOCHEM.BIOPHYS.RES.COMMUN. V. 403 126 2010REFN ISSN 0006-291XPMID 21055387DOI 10.1016/J.BBRC.2010.10.132 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 135 |
| Number Of SNVs | 19 |
| Number Of Permutations | 11304 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.316 |
| p-value | 0.982 |
ClinVar
| Number Of Residues | 135 |
| Number Of SNVs | 61 |
| Number Of Permutations | 31127 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.451 |
| p-value | 0.0 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 19 |
| Number Of ClinVar SNVs | 60 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.201 |
| p-value | 0.032 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
