General Structure Information
| PDB ID | 3hy5 |
| HGNC Gene Label(s) | RLBP1 |
| Structure Name | crystal structure of cralbp |
| Resolution | 3.04Å |
| Reference | AUTH X.HE,J.LOBSIGER,A.STOCKERTITL BOTHNIA DYSTROPHY IS CAUSED BY DOMINO-LIKETITL 2 REARRANGEMENTS IN CELLULAR RETINALDEHYDE-BINDINGTITL 3 PROTEIN MUTANT R234W.REF PROC.NATL.ACAD.SCI.USA V. 106 18545 2009REFN ISSN 0027-8424PMID 19846785DOI 10.1073/PNAS.0907454106 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 284 |
| Number Of SNVs | 72 |
| Number Of Permutations | 8437 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.088 |
| p-value | 0.754 |
ClinVar
| Number Of Residues | 284 |
| Number Of SNVs | 4 |
| Number Of Permutations | 307 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.667 |
| p-value | 0.215 |
COSMIC
| Number Of Residues | 284 |
| Number Of SNVs | 5 |
| Number Of Permutations | 1050 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.4 |
| p-value | 0.208 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 72 |
| Number Of ClinVar SNVs | 4 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.442 |
| p-value | 0.232 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 72 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.279 |
| p-value | 0.653 |