General Structure Information
| PDB ID | 3lxc |
| HGNC Gene Label(s) | GLA |
| Structure Name | interconversion of human lysosomal enzyme specificities |
| Resolution | 2.35Å |
| Reference | AUTH I.B.TOMASIC,M.C.METCALF,A.I.GUCE,N.E.CLARK,S.C.GARMANTITL INTERCONVERSION OF THE SPECIFICITIES OF HUMAN LYSOSOMALTITL 2 ENZYMES ASSOCIATED WITH FABRY AND SCHINDLER DISEASES.REF J.BIOL.CHEM. V. 285 21560 2010REFN ISSN 0021-9258PMID 20444686DOI 10.1074/JBC.M110.118588 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 391 |
| Number Of SNVs | 38 |
| Number Of Permutations | 24436 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.083 |
| p-value | 0.482 |
ClinVar
| Number Of Residues | 391 |
| Number Of SNVs | 56 |
| Number Of Permutations | 34548 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.073 |
| p-value | 0.001 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 38 |
| Number Of ClinVar SNVs | 52 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.05 |
| p-value | 0.01 |