General Structure Information
| PDB ID | 2lp1 |
| HGNC Gene Label(s) | APP |
| Structure Name | the solution nmr structure of the transmembrane c-terminal domain of the amyloid precursor protein (c99) |
| Resolution | -1.0Å |
| Reference | AUTH P.J.BARRETT,Y.SONG,W.D.VAN HORN,E.J.HUSTEDT,J.M.SCHAFER,AUTH 2 A.HADZISELIMOVIC,A.J.BEEL,C.R.SANDERSTITL THE AMYLOID PRECURSOR PROTEIN HAS A FLEXIBLE TRANSMEMBRANETITL 2 DOMAIN AND BINDS CHOLESTEROL.REF SCIENCE V. 336 1168 2012REFN ISSN 0036-8075PMID 22654059DOI 10.1126/SCIENCE.1219988 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 46 |
| Number Of SNVs | 10 |
| Number Of Permutations | 3089 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.422 |
| p-value | 0.267 |
ClinVar
| Number Of Residues | 46 |
| Number Of SNVs | 9 |
| Number Of Permutations | 2677 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.278 |
| p-value | 0.006 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 10 |
| Number Of ClinVar SNVs | 6 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.178 |
| p-value | 0.139 |