General Structure Information
| PDB ID | 1t2a |
| HGNC Gene Label(s) | GMDS |
| Structure Name | crystal structure of human gdp-d-mannose 4,6-dehydratase |
| Resolution | 1.84Å |
| Reference | AUTH M.VEDADI,J.R.WALKER,S.SHARMA,S.HOUSTON,G.WASNEY,AUTH 2 P.LOPPNAU,U.OPPERMANNTITL CRYSTAL STRUCTURE AND BIOPHYSICAL CHARACTERIZATIONTITL 2 OF HUMAN GDP-D-MANNOSE 4,6-DEHYDRATASEREF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 337 |
| Number Of SNVs | 62 |
| Number Of Permutations | 31100 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.072 |
| p-value | 0.143 |
COSMIC
| Number Of Residues | 337 |
| Number Of SNVs | 6 |
| Number Of Permutations | 2143 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | 0.133 |
| p-value | 0.525 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 62 |
| Number Of COSMIC SNVs | 6 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | -0.182 |
| p-value | 0.982 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis

