General Structure Information
| PDB ID | 2w86 |
| HGNC Gene Label(s) | FBN1 |
| Structure Name | crystal structure of fibrillin-1 domains cbegf9hyb2cbegf10, calcium saturated form |
| Resolution | 1.8Å |
| Reference | AUTH S.A.JENSEN,S.IQBAL,E.D.LOWE,C.REDFIELD,P.A.HANDFORDTITL STRUCTURE AND INTERDOMAIN INTERACTIONS OF A HYBRIDTITL 2 DOMAIN: A DISULPHIDE-RICH MODULE OF THETITL 3 FIBRILLIN/LTBP SUPERFAMILY OF MATRIX PROTEINS.REF STRUCTURE V. 17 759 2009REFN ISSN 0969-2126PMID 19446531DOI 10.1016/J.STR.2009.03.014 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 145 |
| Number Of SNVs | 25 |
| Number Of Permutations | 17772 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.117 |
| p-value | 0.092 |
ClinVar
| Number Of Residues | 145 |
| Number Of SNVs | 10 |
| Number Of Permutations | 6474 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.156 |
| p-value | 0.025 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 25 |
| Number Of ClinVar SNVs | 10 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.116 |
| p-value | 0.008 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
