General Structure Information
| PDB ID | 1emo |
| HGNC Gene Label(s) | FBN1 |
| Structure Name | nmr study of a pair of fibrillin ca2+ binding epidermal growth factor-like domains, 22 structures |
| Resolution | -1.0Å |
| Reference | AUTH A.K.DOWNING,V.KNOTT,J.M.WERNER,C.M.CARDY,AUTH 2 I.D.CAMPBELL,P.A.HANDFORDTITL SOLUTION STRUCTURE OF A PAIR OF CALCIUM-BINDINGTITL 2 EPIDERMAL GROWTH FACTOR-LIKE DOMAINS: IMPLICATIONSTITL 3 FOR THE MARFAN SYNDROME AND OTHER GENETICTITL 4 DISORDERS.REF CELL(CAMBRIDGE,MASS.) V. 85 597 1996REFN ISSN 0092-8674PMID 8653794DOI 10.1016/S0092-8674(00)81259-3 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 82 |
| Number Of SNVs | 14 |
| Number Of Permutations | 7735 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.132 |
| p-value | 0.895 |
ClinVar
| Number Of Residues | 82 |
| Number Of SNVs | 9 |
| Number Of Permutations | 5493 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.611 |
| p-value | 0.029 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 14 |
| Number Of ClinVar SNVs | 9 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.303 |
| p-value | 0.064 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
