General Structure Information
| PDB ID | 2h5g |
| HGNC Gene Label(s) | ALDH18A1 |
| Structure Name | crystal structure of human pyrroline-5-carboxylate synthetase |
| Resolution | 2.25Å |
| Reference | AUTH E.PAPAGRIGORIOU,N.SHAFQAT,A.P.TURNBULL,G.BERRIDGE,V.HOZJAN,AUTH 2 K.KAVANAGH,O.GILEADI,C.SMEE,J.BRAY,F.GORREC,M.SUNDSTROM,AUTH 3 C.ARROWSMITH,J.WEIGELT,A.EDWARDS,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN PYRROLINE-5-CARBOXYLATETITL 2 SYNTHETASEREF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 419 |
| Number Of SNVs | 102 |
| Number Of Permutations | 66801 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.02 |
| p-value | 0.454 |
ClinVar
| Number Of Residues | 419 |
| Number Of SNVs | 3 |
| Number Of Permutations | 349 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.333 |
| p-value | 0.023 |
COSMIC
| Number Of Residues | 419 |
| Number Of SNVs | 3 |
| Number Of Permutations | 27 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.333 |
| p-value | 0.481 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 102 |
| Number Of ClinVar SNVs | 3 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.323 |
| p-value | 0.02 |
Cosmic vs. ExAC
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
