R680S Summary

SCN5A R680S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. R680S is not present in gnomAD. R680S has been functionally characterized in 0 papers. Other variants at the same resdue are R680C .R680G .R680H .R680L .R680P .R680S . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

R680S 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
NA NA NA NA NA NA NA NA 0.497

R680S 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.

ResidueNumber Distance(Å) Variants
665 14.7 A665S A665T
666 14.2
667 13.7
668 13.2 V668I
669 12.6
670 12
671 11.4
672 10.7 A672T
673 10.1
674 9.3
675 8.5
676 7.6
677 6.6
678 5.4
679 3.8
681 3.8
682 5.4
683 6.6 C683R
684 7.6
685 8.5
686 9.3
687 10.1
688 10.7
689 11.4 R689C R689H
690 12
691 12.6 A691S A691T
692 13.2 Q692K
693 13.7 R693C R693H
694 14.2 Y694C
695 14.7