General Structure Information
| PDB ID | 4cai |
| HGNC Gene Label(s) | DYSF |
| Structure Name | structure of inner dysf domain of human dysferlin |
| Resolution | 2.2Å |
| Reference | AUTH A.SULA,A.R.COLE,C.YEATS,C.ORENGO,N.H.KEEPTITL CRYSTAL STRUCTURES OF THE HUMAN DYSFERLIN INNER DYSF DOMAINREF BMC STRUCT.BIOL. V. 14 3 2014REFN ISSN 1472-6807PMID 24438169DOI 10.1186/1472-6807-14-3 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 109 |
| Number Of SNVs | 43 |
| Number Of Permutations | 6830 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.048 |
| p-value | 0.73 |
ClinVar
| Number Of Residues | 109 |
| Number Of SNVs | 4 |
| Number Of Permutations | 407 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.167 |
| p-value | 0.45 |
COSMIC
| Number Of Residues | 109 |
| Number Of SNVs | 6 |
| Number Of Permutations | 1926 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.2 |
| p-value | 0.713 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 43 |
| Number Of ClinVar SNVs | 4 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | -0.214 |
| p-value | 0.542 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 43 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 25.0 |
| K Statistic | -0.26 |
| p-value | 0.435 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
