General Structure Information
| PDB ID | 2wl1 |
| HGNC Gene Label(s) | MEFV |
| Structure Name | pyrin pryspry domain |
| Resolution | 1.35Å |
| Reference | AUTH C.WEINERT,C.GRUETTER,H.ROSCHITZKI-VOSER,P.R.MITTL,AUTH 2 M.G.GRUETTERTITL THE CRYSTAL STRUCTURE OF HUMAN PYRIN B30.2 DOMAIN:TITL 2 IMPLICATIONS FOR MUTATIONS ASSOCIATED WITHTITL 3 FAMILIAL MEDITERRANEAN FEVER.REF J.MOL.BIOL. V. 394 226 2009REFN ISSN 0022-2836PMID 19729025DOI 10.1016/J.JMB.2009.08.059 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 191 |
| Number Of SNVs | 53 |
| Number Of Permutations | 16344 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.073 |
| p-value | 0.78 |
ClinVar
| Number Of Residues | 191 |
| Number Of SNVs | 6 |
| Number Of Permutations | 1382 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.133 |
| p-value | 0.475 |
COSMIC
| Number Of Residues | 191 |
| Number Of SNVs | 5 |
| Number Of Permutations | 2670 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.1 |
| p-value | 0.387 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 53 |
| Number Of ClinVar SNVs | 7 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.04 |
| p-value | 0.992 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 53 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | -0.358 |
| p-value | 0.138 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
