R693H Summary

SCN5A R693H was found in 0 papers (see below) with a total of 6 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. R693H is present in 6 out of 249020 alleles in gnomAD (minor allele frequency of 0.002409%). R693H has been functionally characterized in 0 papers. Other variants at the same resdue are R693C .R693G .R693H .R693L .R693P .R693S . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

R693H 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
Tolerated 0.119 -1.78 benign 0 2.194 -1.59 -2 0.485

R693H 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
678 14.7
679 14.2
680 13.7 R680C
681 13.2
682 12.6
683 12 C683R
684 11.4
685 10.7
686 10.1
687 9.3
688 8.5
689 7.6 R689C R689H
690 6.6
691 5.4 A691S A691T
692 3.8 Q692K
694 3.8 Y694C
695 5.4
696 6.6
697 7.6
698 8.5
699 9.3
700 10.1
701 10.7 P701L
702 11.4
703 12
704 12.6
705 13.2 S705F
706 13.7
707 14.2
708 14.7