C686Y Summary

SCN5A C686Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C686Y is not present in gnomAD. C686Y has been functionally characterized in 0 papers. Other variants at the same resdue are C686F .C686G .C686R .C686S .C686S .C686W .C686Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C686Y 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 0.856

C686Y 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
671 14.7
672 14.2 A672T
673 13.7
674 13.2
675 12.6
676 12
677 11.4
678 10.7
679 10.1
680 9.3 R680C
681 8.5
682 7.6
683 6.6 C683R
684 5.4
685 3.8
687 3.8
688 5.4
689 6.6 R689C R689H
690 7.6
691 8.5 A691S A691T
692 9.3 Q692K
693 10.1 R693C R693H
694 10.7 Y694C
695 11.4
696 12
697 12.6
698 13.2
699 13.7
700 14.2
701 14.7 P701L