General Structure Information
| PDB ID | 2m74 |
| HGNC Gene Label(s) | FBN1 |
| Structure Name | 1h, 13c and 15n assignments of the four n-terminal domains of human fibrillin-1 |
| Resolution | -1.0Å |
| Reference | AUTH D.A.YADIN,I.B.ROBERTSON,J.MCNAUGHT-DAVIS,P.EVANS,D.STODDART,AUTH 2 P.A.HANDFORD,S.A.JENSEN,C.REDFIELDTITL STRUCTURE OF THE FIBRILLIN-1 N-TERMINAL DOMAINS SUGGESTSTITL 2 THAT HEPARAN SULFATE REGULATES THE EARLY STAGES OFTITL 3 MICROFIBRIL ASSEMBLY.REF STRUCTURE V. 21 1743 2013REFN ISSN 0969-2126PMID 24035709DOI 10.1016/J.STR.2013.08.004 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 134 |
| Number Of SNVs | 18 |
| Number Of Permutations | 4774 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.203 |
| p-value | 0.526 |
ClinVar
| Number Of Residues | 134 |
| Number Of SNVs | 15 |
| Number Of Permutations | 3910 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.114 |
| p-value | 0.454 |
COSMIC
| Number Of Residues | 134 |
| Number Of SNVs | 4 |
| Number Of Permutations | 728 |
| Optimal Distance Threshold | 28.0 |
| K Statistic | 0.333 |
| p-value | 0.941 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 18 |
| Number Of ClinVar SNVs | 13 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.056 |
| p-value | 0.579 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 18 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | -0.15 |
| p-value | 0.785 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
