General Structure Information
| PDB ID | 2kr6 |
| HGNC Gene Label(s) | PSEN1 |
| Structure Name | solution structure of presenilin-1 ctf subunit |
| Resolution | -1.0Å |
| Reference | AUTH V.DOETSCHTITL SOLUTION STRUCTURE OF PRESENILIN-1 CTF SUBUNITREF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 176 |
| Number Of SNVs | 30 |
| Number Of Permutations | 13175 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.005 |
| p-value | 0.025 |
ClinVar
| Number Of Residues | 176 |
| Number Of SNVs | 8 |
| Number Of Permutations | 2820 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.214 |
| p-value | 0.183 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 30 |
| Number Of ClinVar SNVs | 6 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.11 |
| p-value | 0.121 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
