General Structure Information
| PDB ID | 2obv |
| HGNC Gene Label(s) | MAT1A |
| Structure Name | crystal structure of the human s-adenosylmethionine synthetase 1 in complex with the product |
| Resolution | 2.05Å |
| Reference | AUTH E.S.PILKA,N.SHAFQAT,K.L.KAVANAGH,C.COOPER,V.HOZJAN,AUTH 2 A.TURNBULL,F.VON DELFT,C.H.ARROWSMITH,A.EDWARDS,J.WEIGELT,AUTH 3 M.SUNDSTROM,U.OPPERMANN,STRUCTURAL GENOMICS CONSORTIUM (SGC)TITL CRYSTAL STRUCTURE OF THE HUMAN S-ADENOSYLMETHIONINETITL 2 SYNTHETASE 1 IN COMPLEX WITH THE PRODUCT.REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 380 |
| Number Of SNVs | 72 |
| Number Of Permutations | 12828 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.237 |
| p-value | 0.009 |
ClinVar
| Number Of Residues | 380 |
| Number Of SNVs | 6 |
| Number Of Permutations | 876 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.333 |
| p-value | 0.753 |
COSMIC
| Number Of Residues | 380 |
| Number Of SNVs | 8 |
| Number Of Permutations | 2549 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.214 |
| p-value | 0.966 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 72 |
| Number Of ClinVar SNVs | 6 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.164 |
| p-value | 0.572 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 72 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | -0.137 |
| p-value | 0.81 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
