General Structure Information
| PDB ID | 2fim |
| HGNC Gene Label(s) | TULP1 |
| Structure Name | structure of the c-terminal domain of human tubby-like protein 1 |
| Resolution | 1.9Å |
| Reference | AUTH C.PERSSON,D.OGG,A.G.THORSELL,C.ARROWSMITH,H.BERGLUND,AUTH 2 A.EDWARDS,M.EHN,S.FLODIN,S.GRASLUND,M.HAMMARSTROM,M.HOGBOM,AUTH 3 L.HOLMBERG-SCHIAVONE,T.KOTENYOVA,P.KURSULA,P.NILSSON-EHLE,AUTH 4 P.NORDLUND,T.NYMAN,J.SAGEMARK,P.STENMARK,M.SUNDSTROM,AUTH 5 S.VAN DEN BERG,J.WEIGELT,B.M.HALLBERGTITL STRUCTURE OF THE C-TERMINAL DOMAIN OF HUMAN TUBBY-LIKETITL 2 PROTEIN 1REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 224 |
| Number Of SNVs | 66 |
| Number Of Permutations | 12492 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.034 |
| p-value | 0.113 |
ClinVar
| Number Of Residues | 224 |
| Number Of SNVs | 7 |
| Number Of Permutations | 1176 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.238 |
| p-value | 0.232 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 66 |
| Number Of ClinVar SNVs | 7 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.177 |
| p-value | 0.043 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
