General Structure Information
| PDB ID | 4kit |
| HGNC Gene Label(s) | PRPF8 |
| Structure Name | crystal structure of human brr2 in complex with the prp8 jab1/mpn domain |
| Resolution | 3.6Å |
| Reference | AUTH S.MOZAFFARI-JOVIN,T.WANDERSLEBEN,K.F.SANTOS,C.L.WILL,AUTH 2 R.LUHRMANN,M.C.WAHLTITL INHIBITION OF RNA HELICASE BRR2 BY THE C-TERMINAL TAIL OFTITL 2 THE SPLICEOSOMAL PROTEIN PRP8.REF SCIENCE V. 341 80 2013REFN ISSN 0036-8075PMID 23704370DOI 10.1126/SCIENCE.1237515 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 269 |
| Number Of SNVs | 29 |
| Number Of Permutations | 27851 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.052 |
| p-value | 0.074 |
ClinVar
| Number Of Residues | 269 |
| Number Of SNVs | 4 |
| Number Of Permutations | 1329 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 1.0 |
| p-value | 0.006 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 29 |
| Number Of ClinVar SNVs | 4 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.845 |
| p-value | 0.005 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
