General Structure Information
| PDB ID | 4dck |
| HGNC Gene Label(s) | SCN5A |
| Structure Name | crystal structure of the c-terminus of voltage-gated sodium channel in complex with fgf13 and cam |
| Resolution | 2.2Å |
| Reference | AUTH C.WANG,B.C.CHUNG,H.YAN,S.Y.LEE,G.S.PITTTITL CRYSTAL STRUCTURE OF THE TERNARY COMPLEX OF A NAV C-TERMINALTITL 2 DOMAIN, A FIBROBLAST GROWTH FACTOR HOMOLOGOUS FACTOR, ANDTITL 3 CALMODULIN.REF STRUCTURE V. 20 1167 2012REFN ISSN 0969-2126PMID 22705208DOI 10.1016/J.STR.2012.05.001 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 153 |
| Number Of SNVs | 37 |
| Number Of Permutations | 37656 |
| Optimal Distance Threshold | 24.0 |
| K Statistic | 0.483 |
| p-value | 0.365 |
ClinVar
| Number Of Residues | 153 |
| Number Of SNVs | 28 |
| Number Of Permutations | 29371 |
| Optimal Distance Threshold | 10.0 |
| K Statistic | 0.13 |
| p-value | 0.185 |
COSMIC
| Number Of Residues | 153 |
| Number Of SNVs | 8 |
| Number Of Permutations | 1101 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.036 |
| p-value | 0.674 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 37 |
| Number Of ClinVar SNVs | 26 |
| Optimal Distance Threshold | 21.0 |
| K Statistic | 0.154 |
| p-value | 0.071 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 37 |
| Number Of COSMIC SNVs | 7 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.036 |
| p-value | 0.922 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
