General Structure Information
| PDB ID | 2aft |
| HGNC Gene Label(s) | SUMF1 |
| Structure Name | formylglycine generating enzyme c336s mutant |
| Resolution | 1.66Å |
| Reference | AUTH D.ROESER,A.PREUSSER-KUNZE,B.SCHMIDT,K.GASOW,J.G.WITTMANN,AUTH 2 T.DIERKS,K.VON FIGURA,M.G.RUDOLPHTITL A GENERAL BINDING MECHANISM FOR ALL HUMAN SULFATASES BY THETITL 2 FORMYLGLYCINE-GENERATING ENZYMEREF PROC.NATL.ACAD.SCI.USA V. 103 81 2006REFN ISSN 0027-8424PMID 16368756DOI 10.1073/PNAS.0507592102 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 274 |
| Number Of SNVs | 79 |
| Number Of Permutations | 8107 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.025 |
| p-value | 0.687 |
ClinVar
| Number Of Residues | 274 |
| Number Of SNVs | 9 |
| Number Of Permutations | 890 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.056 |
| p-value | 0.139 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 79 |
| Number Of ClinVar SNVs | 9 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.049 |
| p-value | 0.15 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
