General Structure Information
| PDB ID | 1m7r |
| HGNC Gene Label(s) | MTMR2 |
| Structure Name | crystal structure of myotubularin-related protein-2 (mtmr2) complexed with phosphate |
| Resolution | 2.6Å |
| Reference | AUTH M.J.BEGLEY,G.S.TAYLOR,S.-A.KIM,D.M.VEINE,J.E.DIXON,AUTH 2 J.A.STUCKEYTITL CRYSTAL STRUCTURE OF A PHOSPHOINOSITIDETITL 2 PHOSPHATASE, MTMR2: INSIGHTS INTO MYOTUBULARTITL 3 MYOPATHY AND CHARCOT-MARIE-TOOTH SYNDROMEREF MOL.CELL V. 12 1391 2003REFN ISSN 1097-2765PMID 14690594DOI 10.1016/S1097-2765(03)00486-6 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 513 |
| Number Of SNVs | 95 |
| Number Of Permutations | 25045 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.14 |
| p-value | 0.023 |
COSMIC
| Number Of Residues | 513 |
| Number Of SNVs | 4 |
| Number Of Permutations | 113 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.167 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 95 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 29.0 |
| K Statistic | 0.272 |
| p-value | 0.416 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
