General Structure Information
| PDB ID | 2k21 |
| HGNC Gene Label(s) | KCNE1 |
| Structure Name | nmr structure of human kcne1 in lmpg micelles at ph 6.0 and 40 degree c |
| Resolution | -1.0Å |
| Reference | AUTH C.KANG,C.TIAN,F.D.SONNICHSEN,J.A.SMITH,J.MEILER,AUTH 2 A.L.GEORGE,C.G.VANOYE,H.J.KIM,C.R.SANDERSTITL STRUCTURE OF KCNE1 AND IMPLICATIONS FOR HOW ITTITL 2 MODULATES THE KCNQ1 POTASSIUM CHANNEL.REF BIOCHEMISTRY V. 47 7999 2008REFN ISSN 0006-2960PMID 18611041DOI 10.1021/BI800875Q |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 129 |
| Number Of SNVs | 46 |
| Number Of Permutations | 13662 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.041 |
| p-value | 0.832 |
ClinVar
| Number Of Residues | 129 |
| Number Of SNVs | 24 |
| Number Of Permutations | 8264 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.033 |
| p-value | 0.206 |
COSMIC
| Number Of Residues | 129 |
| Number Of SNVs | 4 |
| Number Of Permutations | 442 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.167 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 46 |
| Number Of ClinVar SNVs | 19 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.026 |
| p-value | 0.835 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 46 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 23.0 |
| K Statistic | -0.22 |
| p-value | 0.707 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
