General Structure Information
| PDB ID | 2idx |
| HGNC Gene Label(s) | MMAB |
| Structure Name | structure of human atp:cobalamin adenosyltransferase bound to atp. |
| Resolution | 2.5Å |
| Reference | AUTH H.L.SCHUBERT,C.P.HILLTITL STRUCTURE OF ATP-BOUND HUMAN ATP:COBALAMINTITL 2 ADENOSYLTRANSFERASE.REF BIOCHEMISTRY V. 45 15188 2006REFN ISSN 0006-2960PMID 17176040DOI 10.1021/BI061396F |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 180 |
| Number Of SNVs | 53 |
| Number Of Permutations | 28615 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.037 |
| p-value | 0.08 |
ClinVar
| Number Of Residues | 180 |
| Number Of SNVs | 7 |
| Number Of Permutations | 3511 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.19 |
| p-value | 0.003 |
COSMIC
| Number Of Residues | 180 |
| Number Of SNVs | 3 |
| Number Of Permutations | 172 |
| Optimal Distance Threshold | 41.0 |
| K Statistic | 0.667 |
| p-value | 0.427 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 53 |
| Number Of ClinVar SNVs | 5 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.163 |
| p-value | 0.096 |
Cosmic vs. ExAC
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
