General Structure Information
| PDB ID | 3law |
| HGNC Gene Label(s) | RAB7A |
| Structure Name | structure of gtp-bound l129f mutant rab7 |
| Resolution | 2.8Å |
| Reference | AUTH B.A.MCCRAY,E.SKORDALAKES,J.P.TAYLORTITL DISEASE MUTATIONS IN RAB7 RESULT IN UNREGULATED NUCLEOTIDETITL 2 EXCHANGE AND INAPPROPRIATE ACTIVATION.REF HUM.MOL.GENET. V. 19 1033 2010REFN ISSN 0964-6906PMID 20028791DOI 10.1093/HMG/DDP567 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 177 |
| Number Of SNVs | 18 |
| Number Of Permutations | 6384 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.072 |
| p-value | 0.083 |
ClinVar
| Number Of Residues | 177 |
| Number Of SNVs | 4 |
| Number Of Permutations | 556 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.833 |
| p-value | 0.051 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 18 |
| Number Of ClinVar SNVs | 4 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.222 |
| p-value | 0.22 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
