General Structure Information
| PDB ID | 1lmj |
| HGNC Gene Label(s) | FBN1 |
| Structure Name | nmr study of the fibrillin-1 cbegf12-13 pair of ca2+ binding epidermal growth factor-like domains |
| Resolution | -1.0Å |
| Reference | AUTH R.S.SMALLRIDGE,P.WHITEMAN,J.M.WERNER,I.D.CAMPBELL,AUTH 2 P.A.HANDFORD,A.K.DOWNINGTITL SOLUTION STRUCTURE AND DYNAMICS OF A CALCIUMTITL 2 BINDING EPIDERMAL GROWTH FACTOR-LIKE DOMAIN PAIRTITL 3 FROM THE NEONATAL REGION OF HUMAN FIBRILLIN-1.REF J.BIOL.CHEM. V. 278 12199 2003REFN ISSN 0021-9258PMID 12511552DOI 10.1074/JBC.M208266200 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 86 |
| Number Of SNVs | 21 |
| Number Of Permutations | 9909 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.043 |
| p-value | 0.891 |
ClinVar
| Number Of Residues | 86 |
| Number Of SNVs | 10 |
| Number Of Permutations | 5729 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.289 |
| p-value | 0.034 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 21 |
| Number Of ClinVar SNVs | 10 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.17 |
| p-value | 0.114 |