General Structure Information
| PDB ID | 1uw5 |
| HGNC Gene Label(s) | PITPNA |
| Structure Name | structure of pitp-alpha complexed to phosphatidylinositol |
| Resolution | 2.9Å |
| Reference | AUTH S.J.TILLEY,A.SKIPPEN,J.MURRAY-RUST,P.M.SWIGART,AUTH 2 A.STEWART,C.P.MORGAN,S.COCKCROFT,N.Q.MCDONALDTITL STRUCTURE-FUNCTION ANALYSIS OF HUMAN [CORRECTED]TITL 2 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN ALPHA BOUNDTITL 3 TO PHOSPHATIDYLINOSITOL.REF STRUCTURE V. 12 317 2004REFN ISSN 0969-2126PMID 14962392DOI 10.1016/J.STR.2004.01.013 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 260 |
| Number Of SNVs | 39 |
| Number Of Permutations | 4814 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.072 |
| p-value | 0.118 |
COSMIC
| Number Of Residues | 260 |
| Number Of SNVs | 3 |
| Number Of Permutations | 133 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.333 |
| p-value | 0.221 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 39 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.306 |
| p-value | 0.51 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
