General Structure Information
| PDB ID | 2amy |
| HGNC Gene Label(s) | PMM2 |
| Structure Name | x-ray structure of human phosphomannomutase 2 (pmm2) |
| Resolution | 2.09Å |
| Reference | AUTH CENTER FOR EUKARYOTIC STRUCTURAL GENOMICS (CESG)TITL X-RAY STRUCTURE OF HUMAN PHOSPHOMANNOMUTASE 2 (PMM2)REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 236 |
| Number Of SNVs | 90 |
| Number Of Permutations | 39489 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.056 |
| p-value | 0.953 |
ClinVar
| Number Of Residues | 236 |
| Number Of SNVs | 25 |
| Number Of Permutations | 12676 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.24 |
| p-value | 0.006 |
COSMIC
| Number Of Residues | 236 |
| Number Of SNVs | 4 |
| Number Of Permutations | 115 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.167 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 90 |
| Number Of ClinVar SNVs | 24 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.105 |
| p-value | 0.007 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 90 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 26.0 |
| K Statistic | 0.464 |
| p-value | 0.566 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
