General Structure Information
| PDB ID | 3eq1 |
| HGNC Gene Label(s) | HMBS |
| Structure Name | the crystal structure of human porphobilinogen deaminase at 2.8a resolution |
| Resolution | 2.8Å |
| Reference | AUTH R.GILL,S.E.KOLSTOE,F.MOHAMMED,A.AL D-BASS,AUTH 2 J.E.MOSELY,M.SARWAR,J.B.COOPER,S.P.WOOD,AUTH 3 P.M.SHOOLINGIN-JORDANTITL STRUCTURE OF HUMAN PORPHOBILINOGEN DEAMINASE AT 2.8TITL 2 A: THE MOLECULAR BASIS OF ACUTE INTERMITTENTTITL 3 PORPHYRIAREF BIOCHEM.J. V. 420 17 2009REFN ISSN 0264-6021PMID 19207107DOI 10.1042/BJ20082077 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 312 |
| Number Of SNVs | 64 |
| Number Of Permutations | 31690 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.038 |
| p-value | 0.987 |
ClinVar
| Number Of Residues | 312 |
| Number Of SNVs | 20 |
| Number Of Permutations | 10435 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.111 |
| p-value | 0.004 |
COSMIC
| Number Of Residues | 312 |
| Number Of SNVs | 7 |
| Number Of Permutations | 1279 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.238 |
| p-value | 0.04 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 64 |
| Number Of ClinVar SNVs | 19 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.085 |
| p-value | 0.02 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 64 |
| Number Of COSMIC SNVs | 7 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.184 |
| p-value | 0.141 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
