General Structure Information
| PDB ID | 2j4e |
| HGNC Gene Label(s) | ITPA |
| Structure Name | the itp complex of human inosine triphosphatase |
| Resolution | 2.8Å |
| Reference | AUTH P.STENMARK,P.KURSULA,S.FLODIN,S.GRASLUND,R.LANDRY,AUTH 2 P.NORDLUND,H.SCHULERTITL CRYSTAL STRUCTURE OF HUMAN INOSINE TRIPHOSPHATASE:TITL 2 SUBSTRATE BINDING AND IMPLICATION OF THE INOSINETITL 3 TRIPHOSPHATASE DEFICIENCY MUTATION P32T.REF J.BIOL.CHEM. V. 282 3182 2007REFN ISSN 0021-9258PMID 17138556DOI 10.1074/JBC.M609838200 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 189 |
| Number Of SNVs | 54 |
| Number Of Permutations | 5619 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.157 |
| p-value | 0.764 |
COSMIC
| Number Of Residues | 189 |
| Number Of SNVs | 4 |
| Number Of Permutations | 335 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.667 |
| p-value | 0.134 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 54 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 20.0 |
| K Statistic | 0.561 |
| p-value | 0.196 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
