General Structure Information
| PDB ID | 2l9n |
| HGNC Gene Label(s) | SBDS |
| Structure Name | structure of the human shwachman-bodian-diamond syndrome (sbds) protein |
| Resolution | -1.0Å |
| Reference | AUTH A.J.FINCH,C.HILCENKO,N.BASSE,L.F.DRYNAN,B.GOYENECHEA,AUTH 2 T.F.MENNE,A.GONZALEZ FERNANDEZ,P.SIMPSON,C.S.DSANTOS,AUTH 3 M.J.ARENDS,J.DONADIEU,C.BELLANNE-CHANTELOT,M.COSTANZO,AUTH 4 C.BOONE,A.N.MCKENZIE,S.M.FREUND,A.J.WARRENTITL UNCOUPLING OF GTP HYDROLYSIS FROM EIF6 RELEASE ON THETITL 2 RIBOSOME CAUSES SHWACHMAN-DIAMOND SYNDROME.REF GENES DEV. V. 25 917 2011REFN ISSN 0890-9369PMID 21536732DOI 10.1101/GAD.623011 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 250 |
| Number Of SNVs | 61 |
| Number Of Permutations | 41456 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | 0.299 |
| p-value | 0.009 |
ClinVar
| Number Of Residues | 250 |
| Number Of SNVs | 3 |
| Number Of Permutations | 349 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | 0.0 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 61 |
| Number Of ClinVar SNVs | 3 |
| Optimal Distance Threshold | 17.0 |
| K Statistic | -0.245 |
| p-value | 0.747 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
