General Structure Information
| PDB ID | 2azt |
| HGNC Gene Label(s) | GNMT |
| Structure Name | crystal structure of h176n mutant of human glycine n-methyltransferase |
| Resolution | 2.7Å |
| Reference | AUTH Z.LUKA,S.PAKHOMOVA,Y.LUKA,M.E.NEWCOMER,C.WAGNERTITL DESTABILIZATION OF HUMAN GLYCINE N-METHYLTRANSFERASE BYTITL 2 H176N MUTATION.REF PROTEIN SCI. V. 16 1957 2007REFN ISSN 0961-8368PMID 17660255DOI 10.1110/PS.072921507 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 277 |
| Number Of SNVs | 73 |
| Number Of Permutations | 12227 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.037 |
| p-value | 0.879 |
COSMIC
| Number Of Residues | 277 |
| Number Of SNVs | 4 |
| Number Of Permutations | 82 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.167 |
| p-value | 0.658 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 73 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 28.0 |
| K Statistic | 0.428 |
| p-value | 0.432 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
