General Structure Information
| PDB ID | 3gkh |
| HGNC Gene Label(s) | NPC1 |
| Structure Name | npc1(ntd) |
| Resolution | 1.81Å |
| Reference | AUTH H.J.KWON,L.ABI-MOSLEH,M.L.WANG,J.DEISENHOFER,J.L.GOLDSTEIN,AUTH 2 M.S.BROWN,R.E.INFANTETITL STRUCTURE OF N-TERMINAL DOMAIN OF NPC1 REVEALS DISTINCTTITL 2 SUBDOMAINS FOR BINDING AND TRANSFER OF CHOLESTEROL.REF CELL(CAMBRIDGE,MASS.) V. 137 1213 2009REFN ISSN 0092-8674PMID 19563754DOI 10.1016/J.CELL.2009.03.049 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 225 |
| Number Of SNVs | 54 |
| Number Of Permutations | 26651 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.224 |
| p-value | 0.021 |
ClinVar
| Number Of Residues | 225 |
| Number Of SNVs | 3 |
| Number Of Permutations | 217 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.333 |
| p-value | 0.847 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 54 |
| Number Of ClinVar SNVs | 3 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.205 |
| p-value | 0.663 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
