General Structure Information
| PDB ID | 2cup |
| HGNC Gene Label(s) | FHL1 |
| Structure Name | solution structure of the skeletal muscle lim-protein 1 |
| Resolution | -1.0Å |
| Reference | AUTH T.N.NIRAULA,S.KOSHIBA,M.INOUE,T.KIGAWA,S.YOKOYAMATITL SOLUTION STRUCTURE OF THE SKELETAL MUSCLETITL 2 LIM-PROTEIN 1REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 88 |
| Number Of SNVs | 20 |
| Number Of Permutations | 10381 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.121 |
| p-value | 0.311 |
ClinVar
| Number Of Residues | 88 |
| Number Of SNVs | 3 |
| Number Of Permutations | 194 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 1.0 |
| p-value | 0.011 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 20 |
| Number Of ClinVar SNVs | 3 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.921 |
| p-value | 0.029 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
