General Structure Information
| PDB ID | 2yhw |
| HGNC Gene Label(s) | GNE |
| Structure Name | high-resolution crystal structures of n-acetylmannosamine kinase: insights about substrate specificity, activity and inhibitor modelling. |
| Resolution | 1.64Å |
| Reference | AUTH J.MARTINEZ,L.D.NGUYEN,E.TAUBERGER,S.HINDERLICH,W.REUTTER,AUTH 2 H.FAN,W.SAENGER,S.MONIOTTITL CRYSTAL STRUCTURES OF N-ACETYLMANNOSAMINE KINASE PROVIDETITL 2 INSIGHTS INTO ENZYME SPECIFICITY AND INHIBITIONREF J.BIOL.CHEM. V. 287 13656 2012REFN ISSN 0021-9258PMID 22343627DOI 10.1074/JBC.M111.318170 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 307 |
| Number Of SNVs | 66 |
| Number Of Permutations | 9143 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.189 |
| p-value | 0.002 |
ClinVar
| Number Of Residues | 307 |
| Number Of SNVs | 6 |
| Number Of Permutations | 628 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.2 |
| p-value | 0.448 |
COSMIC
| Number Of Residues | 307 |
| Number Of SNVs | 4 |
| Number Of Permutations | 16 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | 0.167 |
| p-value | 0.929 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 66 |
| Number Of ClinVar SNVs | 6 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.133 |
| p-value | 0.288 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 66 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | -0.281 |
| p-value | 1.0 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
