General Structure Information
| PDB ID | 4bzc |
| HGNC Gene Label(s) | SAMHD1 |
| Structure Name | crystal structure of the tetrameric dgtp-bound wild type samhd1 catalytic core |
| Resolution | 2.88Å |
| Reference | AUTH X.JI,Y.WU,J.YAN,J.MEHRENS,H.YANG,M.DELUCIA,C.HAO,AUTH 2 A.M.GRONENBORN,J.SKOWRONSKI,J.AHN,Y.XIONGTITL MECHANISM OF ALLOSTERIC ACTIVATION OF SAMHD1 BY DGTPREF NAT.STRUCT.MOL.BIOL. V. 20 1304 2013REFN ISSN 1545-9993PMID 24141705DOI 10.1038/NSMB.2692 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 476 |
| Number Of SNVs | 96 |
| Number Of Permutations | 20141 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.012 |
| p-value | 0.304 |
ClinVar
| Number Of Residues | 476 |
| Number Of SNVs | 5 |
| Number Of Permutations | 750 |
| Optimal Distance Threshold | 23.0 |
| K Statistic | 0.9 |
| p-value | 0.026 |
COSMIC
| Number Of Residues | 476 |
| Number Of SNVs | 6 |
| Number Of Permutations | 2364 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.333 |
| p-value | 0.095 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 96 |
| Number Of ClinVar SNVs | 5 |
| Optimal Distance Threshold | 23.0 |
| K Statistic | 0.618 |
| p-value | 0.033 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 96 |
| Number Of COSMIC SNVs | 6 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.251 |
| p-value | 0.414 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
