W697C Summary

SCN5A W697C was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. W697C is not present in gnomAD. W697C has been functionally characterized in 0 papers. Other variants at the same resdue are W697C .W697C .W697G .W697L .W697R .W697R .W697S . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

W697C 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 0.867

W697C 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
682 14.7
683 14.2 C683R
684 13.7
685 13.2
686 12.6
687 12
688 11.4
689 10.7 R689C R689H
690 10.1
691 9.3 A691S A691T
692 8.5 Q692K
693 7.6 R693C R693H
694 6.6 Y694C
695 5.4
696 3.8
698 3.8
699 5.4
700 6.6
701 7.6 P701L
702 8.5
703 9.3
704 10.1
705 10.7 S705F
706 11.4
707 12
708 12.6
709 13.2
710 13.7
711 14.2
712 14.7