General Structure Information
| PDB ID | 1qki |
| HGNC Gene Label(s) | G6PD |
| Structure Name | x-ray structure of human glucose 6-phosphate dehydrogenase (variant canton r459l) complexed with structural nadp+ |
| Resolution | 3.0Å |
| Reference | AUTH S.W.N.AU,S.GOVER,V.M.S.LAM,M.J.ADAMSTITL HUMAN GLUCOSE-6-PHOSPHATE DEHYDROGENASE: THETITL 2 CRYSTAL STRUCTURE REVEALS A STRUCTURAL NADP+TITL 3 MOLECULE AND PROVIDES INSIGHTS INTO ENZYMETITL 4 DEFICIENCYREF STRUCTURE V. 8 293 2000REFN ISSN 0969-2126PMID 10745013DOI 10.1016/S0969-2126(00)00104-0 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 490 |
| Number Of SNVs | 83 |
| Number Of Permutations | 55556 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.022 |
| p-value | 0.871 |
ClinVar
| Number Of Residues | 490 |
| Number Of SNVs | 46 |
| Number Of Permutations | 36350 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.119 |
| p-value | 0.713 |
COSMIC
| Number Of Residues | 490 |
| Number Of SNVs | 3 |
| Number Of Permutations | 18 |
| Optimal Distance Threshold | 22.0 |
| K Statistic | 0.333 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 83 |
| Number Of ClinVar SNVs | 45 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.021 |
| p-value | 0.696 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 83 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 37.0 |
| K Statistic | -0.281 |
| p-value | 0.698 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
