General Structure Information
| PDB ID | 2www |
| HGNC Gene Label(s) | MMAA |
| Structure Name | crystal structure of methylmalonic acidemia type a protein |
| Resolution | 2.64Å |
| Reference | AUTH D.S.FROESE,G.KOCHAN,J.R.C.MUNIZ,X.WU,C.GILEADI,AUTH 2 E.UGOCHUKWU,E.KRYSZTOFINSKA,R.A.GRAVEL,U.OPPERMANN,AUTH 3 W.W.YUETITL STRUCTURES OF THE HUMAN GTPASE MMAA AND VITAMINTITL 2 B12-DEPENDENT METHYLMALONYL-COA MUTASE AND INSIGHTTITL 3 INTO THEIR COMPLEX FORMATION.REF J.BIOL.CHEM. V. 285 38204 2010REFN ISSN 0021-9258PMID 20876572DOI 10.1074/JBC.M110.177717 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 298 |
| Number Of SNVs | 73 |
| Number Of Permutations | 20347 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.045 |
| p-value | 0.827 |
COSMIC
| Number Of Residues | 298 |
| Number Of SNVs | 4 |
| Number Of Permutations | 158 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.5 |
| p-value | 0.038 |
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 | 11.0 |
| K Statistic | 0.425 |
| p-value | 0.032 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
