General Structure Information
| PDB ID | 2i3c |
| HGNC Gene Label(s) | ASPA |
| Structure Name | crystal structure of an aspartoacylase from homo sapiens |
| Resolution | 2.8Å |
| Reference | AUTH E.BITTO,C.A.BINGMAN,G.E.WESENBERG,J.G.MCCOY,AUTH 2 G.N.PHILLIPSTITL STRUCTURE OF ASPARTOACYLASE, THE BRAIN ENZYMETITL 2 IMPAIRED IN CANAVAN DISEASE.REF PROC.NATL.ACAD.SCI.USA V. 104 456 2007REFN ISSN 0027-8424PMID 17194761DOI 10.1073/PNAS.0607817104 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 296 |
| Number Of SNVs | 86 |
| Number Of Permutations | 15511 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.021 |
| p-value | 0.869 |
ClinVar
| Number Of Residues | 296 |
| Number Of SNVs | 11 |
| Number Of Permutations | 1835 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.527 |
| p-value | 0.089 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 86 |
| Number Of ClinVar SNVs | 11 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.106 |
| p-value | 0.081 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
