General Structure Information
| PDB ID | 4dx1 |
| HGNC Gene Label(s) | TRPV4 |
| Structure Name | crystal structure of the human trpv4 ankyrin repeat domain |
| Resolution | 2.85Å |
| Reference | AUTH H.INADA,E.PROCKO,M.SOTOMAYOR,R.GAUDETTITL STRUCTURAL AND BIOCHEMICAL CONSEQUENCES OF DISEASE-CAUSINGTITL 2 MUTATIONS IN THE ANKYRIN REPEAT DOMAIN OF THE HUMAN TRPV4TITL 3 CHANNEL.REF BIOCHEMISTRY V. 51 6195 2012REFN ISSN 0006-2960PMID 22702953DOI 10.1021/BI300279B |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 249 |
| Number Of SNVs | 68 |
| Number Of Permutations | 16042 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.034 |
| p-value | 0.633 |
ClinVar
| Number Of Residues | 249 |
| Number Of SNVs | 14 |
| Number Of Permutations | 2945 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.066 |
| p-value | 0.366 |
COSMIC
| Number Of Residues | 249 |
| Number Of SNVs | 6 |
| Number Of Permutations | 2874 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.133 |
| p-value | 0.452 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 68 |
| Number Of ClinVar SNVs | 13 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.043 |
| p-value | 0.343 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 68 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.166 |
| p-value | 0.12 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
