S802C Summary

SCN5A S802C was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. S802C is not present in gnomAD. S802C has been functionally characterized in 0 papers. Other variants at the same resdue are S802C .S802G .S802I .S802N .S802R .S802R .S802R .S802T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

S802C Predictions

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.

SIFT Sift Score PROVEAN Score Polyphen2 Polyphen2 Score eaRate blastPssm pamScore REVEL

S802C has 15 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.

ResidueNumber Distance(Å) Variants
750 14.4
794 13.1
795 10.5
796 11.2
797 8.4 G797V
798 6.4
799 6
800 9.1 R800C R800H R800L
801 5.3 p.801_803delMSN/insS
803 3.7
804 7.5
805 9 S805L
806 12.2
807 11.5
808 11.9 R808C