General Structure Information
| PDB ID | 1j1e |
| HGNC Gene Label(s) | TNNC1 |
| Structure Name | crystal structure of the 52kda domain of human cardiac troponin in the ca2+ saturated form |
| Resolution | 3.3Å |
| Reference | AUTH S.TAKEDA,A.YAMASHITA,K.MAEDA,Y.MAEDATITL STRUCTURE OF THE CORE DOMAIN OF HUMAN CARDIACTITL 2 TROPONIN IN THE CA2+-SATURATED FORMREF NATURE V. 424 35 2003REFN ISSN 0028-0836PMID 12840750DOI 10.1038/NATURE01780 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 159 |
| Number Of SNVs | 24 |
| Number Of Permutations | 3812 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.192 |
| p-value | 0.0 |
ClinVar
| Number Of Residues | 159 |
| Number Of SNVs | 12 |
| Number Of Permutations | 1916 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.03 |
| p-value | 0.955 |
COSMIC
| Number Of Residues | 159 |
| Number Of SNVs | 3 |
| Number Of Permutations | 46 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.333 |
| p-value | 0.644 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC



Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 24 |
| Number Of ClinVar SNVs | 12 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | -0.131 |
| p-value | 0.163 |
Cosmic vs. ExAC

Pathogenic Proximity Analysis
ClinVar PathProx Analysis


COSMIC PathProx Analysis

