General Structure Information
| PDB ID | 1s31 |
| HGNC Gene Label(s) | TUB |
| Structure Name | crystal structure analysis of the human tub protein (isoform a) spanning residues 289 through 561 |
| Resolution | 2.7Å |
| Reference | AUTH S.BOUTBOUL,K.J.CARROLL,A.BASDEVANT,C.GOMEZ,E.NANDROT,AUTH 2 K.CLEMENT,L.SHAPIRO,M.ABITBOLTITL A NOVEL HUMAN OBESITY AND SENSORY DEFICIT SYNDROME RESULTINGTITL 2 FROM A MUTATION IN THE TUB GENEREF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 273 |
| Number Of SNVs | 74 |
| Number Of Permutations | 53892 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.049 |
| p-value | 0.249 |
COSMIC
| Number Of Residues | 273 |
| Number Of SNVs | 7 |
| Number Of Permutations | 864 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.095 |
| p-value | 0.589 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 74 |
| Number Of COSMIC SNVs | 7 |
| Optimal Distance Threshold | 32.0 |
| K Statistic | -0.148 |
| p-value | 0.716 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis

