SCN5A R568C was found in 0 papers (see below) with a total of 13 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. R568C is present in 13 out of 280398 alleles in gnomAD (minor allele frequency of 0.004636%). R568C has been functionally characterized in 0 papers. Other variants at the same resdue are R568C .R568G .R568H .R568L .R568P .R568S .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
PROVEAN scores less than -2 are considered deleterious. REVEL scores higher than 0.5 or 0.75 is considered likely pathogenic (higher sensitivity with the former cutoff, higher specificity with the latter cutoff). A PolyPhen-2 score of 0.85 or greater is considered likely pathogenic. PAM scores reflect the chemistry difference between WT and variant amino acid (more negative being greater difference between the two). BLAST-PSSM reflects the evolutionary conservation of residue substitutions, more negative numbers indicate fewer observations of the specific substitution than is expected.
R568C has 30 neighbors within 15 ångströms that have been found in individuals.
A residue within a folded protein on average has nearest neighbors that fall roughly into two shells: a "nearest" neighbor around 5-6 angstroms and a second shell around 11 angstroms.