General Structure Information
| PDB ID | 1apj |
| HGNC Gene Label(s) | FBN1 |
| Structure Name | nmr study of the transforming growth factor beta binding protein-like domain (tb module/8-cys domain), nmr, 21 structures |
| Resolution | -1.0Å |
| Reference | AUTH X.YUAN,A.K.DOWNING,V.KNOTT,P.A.HANDFORDTITL SOLUTION STRUCTURE OF THE TRANSFORMING GROWTHTITL 2 FACTOR BETA-BINDING PROTEIN-LIKE MODULE, A DOMAINTITL 3 ASSOCIATED WITH MATRIX FIBRILS.REF EMBO J. V. 16 6659 1997REFN ISSN 0261-4189PMID 9362480DOI 10.1093/EMBOJ/16.22.6659 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 74 |
| Number Of SNVs | 4 |
| Number Of Permutations | 94 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.167 |
| p-value | 0.744 |
ClinVar
| Number Of Residues | 74 |
| Number Of SNVs | 3 |
| Number Of Permutations | 27 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.333 |
| p-value | 0.65 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 4 |
| Number Of ClinVar SNVs | 3 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | -0.167 |
| p-value | 0.574 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
