General Structure Information
| PDB ID | 1pv8 |
| HGNC Gene Label(s) | ALAD |
| Structure Name | crystal structure of a low activity f12l mutant of human porphobilinogen synthase |
| Resolution | 2.2Å |
| Reference | AUTH S.BREINIG,J.KERVINEN,L.STITH,A.S.WASSON,R.FAIRMAN,AUTH 2 A.WLODAWER,A.ZDANOV,E.K.JAFFETITL CONTROL OF TETRAPYRROLE BIOSYNTHESIS BY ALTERNATE QUATERNARYTITL 2 FORMS OF PORPHOBILINOGEN SYNTHASE.REF NAT.STRUCT.BIOL. V. 10 757 2003REFN ISSN 1072-8368PMID 12897770DOI 10.1038/NSB963 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 280 |
| Number Of SNVs | 70 |
| Number Of Permutations | 16904 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.034 |
| p-value | 0.971 |
ClinVar
| Number Of Residues | 280 |
| Number Of SNVs | 3 |
| Number Of Permutations | 231 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.333 |
| p-value | 0.08 |
COSMIC
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 70 |
| Number Of ClinVar SNVs | 3 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.327 |
| p-value | 0.091 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 70 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | -0.206 |
| p-value | 0.923 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
