General Structure Information
| PDB ID | 1apy |
| HGNC Gene Label(s) | AGA |
| Structure Name | human aspartylglucosaminidase |
| Resolution | 2.0Å |
| Reference | AUTH C.OINONEN,R.TIKKANEN,J.ROUVINEN,L.PELTONENTITL THREE-DIMENSIONAL STRUCTURE OF HUMAN LYSOSOMALTITL 2 ASPARTYLGLUCOSAMINIDASE.REF NAT.STRUCT.BIOL. V. 2 1102 1995REFN ISSN 1072-8368PMID 8846222DOI 10.1038/NSB1295-1102 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 161 |
| Number Of SNVs | 44 |
| Number Of Permutations | 7618 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.022 |
| p-value | 0.57 |
ClinVar
| Number Of Residues | 161 |
| Number Of SNVs | 8 |
| Number Of Permutations | 1402 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.036 |
| p-value | 0.481 |
COSMIC
| Number Of Residues | 161 |
| Number Of SNVs | 3 |
| Number Of Permutations | 165 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.333 |
| p-value | 0.673 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 44 |
| Number Of ClinVar SNVs | 8 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.024 |
| p-value | 0.448 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 44 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.269 |
| p-value | 0.898 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
