General Structure Information
| PDB ID | 1gxe |
| HGNC Gene Label(s) | MYBPC3 |
| Structure Name | central domain of cardiac myosin binding protein c |
| Resolution | -1.0Å |
| Reference | AUTH S.IDOWU,M.GAUTEL,S.PERKINS,M.PFUHLTITL STRUCTURE, STABILITY AND DYNAMICS OF THE CENTRALTITL 2 DOMAIN OF CARDIAC MYOSIN BINDING PROTEIN CTITL 3 (MYBP-C): IMPLICATIONS FOR MULTIDOMAIN ASSEMBLYTITL 4 AND CAUSES FOR CARDIOMYOPATHYREF J.MOL.BIOL. V. 329 745 2003REFN ISSN 0022-2836PMID 12787675DOI 10.1016/S0022-2836(03)00425-X |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 130 |
| Number Of SNVs | 32 |
| Number Of Permutations | 18759 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.054 |
| p-value | 0.911 |
ClinVar
| Number Of Residues | 130 |
| Number Of SNVs | 9 |
| Number Of Permutations | 4696 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.25 |
| p-value | 0.48 |
COSMIC
| Number Of Residues | 130 |
| Number Of SNVs | 5 |
| Number Of Permutations | 1094 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.1 |
| p-value | 0.611 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 32 |
| Number Of ClinVar SNVs | 7 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.13 |
| p-value | 0.753 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 32 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | 0.556 |
| p-value | 0.283 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
