C683F Summary

SCN5A C683F was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C683F is not present in gnomAD. C683F has been functionally characterized in 0 papers. Other variants at the same resdue are C683F .C683G .C683R .C683S .C683S .C683W .C683Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

C683F 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 0.763

C683F 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
668 14.7 V668I
669 14.2
670 13.7
671 13.2
672 12.6 A672T
673 12
674 11.4
675 10.7
676 10.1
677 9.3
678 8.5
679 7.6
680 6.6 R680C
681 5.4
682 3.8
684 3.8
685 5.4
686 6.6
687 7.6
688 8.5
689 9.3 R689C R689H
690 10.1
691 10.7 A691S A691T
692 11.4 Q692K
693 12 R693C R693H
694 12.6 Y694C
695 13.2
696 13.7
697 14.2
698 14.7