General Structure Information
| PDB ID | 1uzp |
| HGNC Gene Label(s) | FBN1 |
| Structure Name | integrin binding cbegf22-tb4-cbegf33 fragment of human fibrillin-1, sm bound form cbegf23 domain only. |
| Resolution | 1.78Å |
| Reference | AUTH S.S.J.LEE,V.KNOTT,J.JOVANOVI,K.HARLOS,J.GRIMES,AUTH 2 L.CHOULIER,H.MARDON,D.I.STUART,P.A.HANDFORDTITL STRUCTURE OF THE INTEGRIN BINDING FRAGMENT FROMTITL 2 FIBRILLIN-1 GIVES NEW INSIGHTS INTO MICROFIBRILTITL 3 ORGANIZATIONREF STRUCTURE V. 12 717 2004REFN ISSN 0969-2126PMID 15062093DOI 10.1016/J.STR.2004.02.023 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 152 |
| Number Of SNVs | 22 |
| Number Of Permutations | 18307 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.052 |
| p-value | 0.714 |
ClinVar
| Number Of Residues | 152 |
| Number Of SNVs | 12 |
| Number Of Permutations | 9546 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.152 |
| p-value | 0.511 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 22 |
| Number Of ClinVar SNVs | 12 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.1 |
| p-value | 0.354 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
