General Structure Information
| PDB ID | 4m9p |
| HGNC Gene Label(s) | FLNA |
| Structure Name | crystal structure of the human filamin a ig-like domains 3-5 |
| Resolution | 1.72Å |
| Reference | AUTH R.SETHI,J.SEPPALA,H.TOSSAVAINEN,M.YLILAURI,S.RUSKAMO,AUTH 2 O.T.PENTIKAINEN,U.PENTIKAINEN,P.PERMI,J.YLANNETITL A NOVEL STRUCTURAL UNIT IN THE N-TERMINAL REGION OFTITL 2 FILAMINS.REF J.BIOL.CHEM. V. 289 8588 2014REFN ISSN 0021-9258PMID 24469451DOI 10.1074/JBC.M113.537456 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 289 |
| Number Of SNVs | 57 |
| Number Of Permutations | 27930 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.112 |
| p-value | 0.754 |
ClinVar
| Number Of Residues | 289 |
| Number Of SNVs | 3 |
| Number Of Permutations | 246 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | 0.667 |
| p-value | 0.81 |
COSMIC
| Number Of Residues | 289 |
| Number Of SNVs | 4 |
| Number Of Permutations | 409 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.167 |
| p-value | 0.817 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC



Variant Set Comparisons
ClinVar vs. ExAC

Cosmic vs. ExAC
| Number Of ExAC SNVs | 57 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.132 |
| p-value | 0.489 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis


COSMIC PathProx Analysis

