General Structure Information
| PDB ID | 3d9s |
| HGNC Gene Label(s) | AQP5 |
| Structure Name | human aquaporin 5 (aqp5) – high resolution x-ray structure |
| Resolution | 2.0Å |
| Reference | AUTH R.HORSEFIELD,K.NORDEN,M.FELLERT,A.BACKMARK,AUTH 2 S.TORNROTH-HORSEFIELD,AUTH 3 A.C.TERWISSCHA VAN SCHELTINGA,J.KVASSMAN,AUTH 4 P.KJELLBOM,U.JOHANSON,R.NEUTZETITL HIGH-RESOLUTION X-RAY STRUCTURE OF HUMAN AQUAPORINTITL 2 5REF PROC.NATL.ACAD.SCI.USA V. 105 13327 2008REFN ISSN 0027-8424PMID 18768791DOI 10.1073/PNAS.0801466105 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 244 |
| Number Of SNVs | 68 |
| Number Of Permutations | 34202 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.258 |
| p-value | 0.018 |
ClinVar
| Number Of Residues | 244 |
| Number Of SNVs | 5 |
| Number Of Permutations | 1504 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.5 |
| p-value | 0.047 |
COSMIC
| Number Of Residues | 244 |
| Number Of SNVs | 3 |
| Number Of Permutations | 162 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.667 |
| p-value | 0.41 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 68 |
| Number Of ClinVar SNVs | 5 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.57 |
| p-value | 0.033 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 68 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.461 |
| p-value | 0.402 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
