General Structure Information
| PDB ID | 3igu |
| HGNC Gene Label(s) | NAGA |
| Structure Name | crystal structure of human alpha-n-acetylgalactosaminidase, covalent intermediate |
| Resolution | 2.15Å |
| Reference | AUTH N.E.CLARK,S.C.GARMANTITL THE 1.9 A STRUCTURE OF HUMANTITL 2 ALPHA-N-ACETYLGALACTOSAMINIDASE: THE MOLECULAR BASIS OFTITL 3 SCHINDLER AND KANZAKI DISEASESREF J.MOL.BIOL. V. 393 435 2009REFN ISSN 0022-2836PMID 19683538DOI 10.1016/J.JMB.2009.08.021 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 387 |
| Number Of SNVs | 105 |
| Number Of Permutations | 42921 |
| Optimal Distance Threshold | 23.0 |
| K Statistic | 0.331 |
| p-value | 0.04 |
ClinVar
| Number Of Residues | 387 |
| Number Of SNVs | 3 |
| Number Of Permutations | 282 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.333 |
| p-value | 0.926 |
COSMIC
| Number Of Residues | 387 |
| Number Of SNVs | 5 |
| Number Of Permutations | 1597 |
| Optimal Distance Threshold | 27.0 |
| K Statistic | 0.2 |
| p-value | 0.248 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 105 |
| Number Of ClinVar SNVs | 3 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.186 |
| p-value | 0.779 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 105 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 33.0 |
| K Statistic | -0.318 |
| p-value | 0.129 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
