General Structure Information
| PDB ID | 1jbi |
| HGNC Gene Label(s) | COCH |
| Structure Name | nmr structure of the lccl domain |
| Resolution | -1.0Å |
| Reference | AUTH E.LIEPINSH,M.TREXLER,A.KAIKKONEN,J.WEIGELT,AUTH 2 L.BANYAI,L.PATTHY,G.OTTINGTITL NMR STRUCTURE OF THE LCCL DOMAIN AND IMPLICATIONSTITL 2 FOR DFNA9 DEAFNESS DISORDER.REF EMBO J. V. 20 5347 2001REFN ISSN 0261-4189PMID 11574466DOI 10.1093/EMBOJ/20.19.5347 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 97 |
| Number Of SNVs | 23 |
| Number Of Permutations | 4850 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.067 |
| p-value | 0.207 |
ClinVar
| Number Of Residues | 97 |
| Number Of SNVs | 6 |
| Number Of Permutations | 729 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.133 |
| p-value | 0.631 |
COSMIC
| Number Of Residues | 97 |
| Number Of SNVs | 3 |
| Number Of Permutations | 140 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.333 |
| p-value | 0.746 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 23 |
| Number Of ClinVar SNVs | 6 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | -0.024 |
| p-value | 0.945 |
Cosmic vs. ExAC
