General Structure Information
| PDB ID | 1fb1 |
| HGNC Gene Label(s) | GCH1 |
| Structure Name | crystal structure of human gtp cyclohydrolase i |
| Resolution | 3.1Å |
| Reference | AUTH G.AUERBACH,A.HERRMANN,A.BRACHER,G.BADER,M.GUTLICH,M.FISCHER,AUTH 2 M.NEUKAMM,M.GARRIDO-FRANCO,J.RICHARDSON,H.NAR,R.HUBER,AUTH 3 A.BACHERTITL ZINC PLAYS A KEY ROLE IN HUMAN AND BACTERIAL GTPTITL 2 CYCLOHYDROLASE I.REF PROC.NATL.ACAD.SCI.USA V. 97 13567 2000REFN ISSN 0027-8424PMID 11087827DOI 10.1073/PNAS.240463497 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 196 |
| Number Of SNVs | 27 |
| Number Of Permutations | 18448 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.063 |
| p-value | 0.99 |
ClinVar
| Number Of Residues | 196 |
| Number Of SNVs | 13 |
| Number Of Permutations | 7889 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.026 |
| p-value | 0.836 |
COSMIC
| Number Of Residues | 196 |
| Number Of SNVs | 3 |
| Number Of Permutations | 7 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.333 |
| p-value | 0.35 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 27 |
| Number Of ClinVar SNVs | 13 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | -0.037 |
| p-value | 0.497 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 27 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 22.0 |
| K Statistic | 0.618 |
| p-value | 0.227 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
