General Structure Information
| PDB ID | 1tki |
| HGNC Gene Label(s) | TTN |
| Structure Name | autoinhibited serine kinase domain of the giant muscle protein titin |
| Resolution | 2.0Å |
| Reference | AUTH O.MAYANS,P.F.VAN DER VEN,M.WILM,A.MUES,P.YOUNG,AUTH 2 D.O.FURST,M.WILMANNS,M.GAUTELTITL STRUCTURAL BASIS FOR ACTIVATION OF THE TITINTITL 2 KINASE DOMAIN DURING MYOFIBRILLOGENESIS.REF NATURE V. 395 863 1998REFN ISSN 0028-0836PMID 9804419DOI 10.1038/27603 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 321 |
| Number Of SNVs | 91 |
| Number Of Permutations | 32366 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.067 |
| p-value | 0.571 |
ClinVar
| Number Of Residues | 321 |
| Number Of SNVs | 3 |
| Number Of Permutations | 219 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | 0.667 |
| p-value | 0.586 |
COSMIC
| Number Of Residues | 321 |
| Number Of SNVs | 6 |
| Number Of Permutations | 518 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.133 |
| p-value | 0.068 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 91 |
| Number Of ClinVar SNVs | 3 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.224 |
| p-value | 0.559 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 91 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.188 |
| p-value | 0.129 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
