C699F Summary

SCN5A C699F was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C699F is not present in gnomAD. C699F has been functionally characterized in 0 papers. Other variants at the same resdue are C699F .C699G .C699R .C699S .C699S .C699W .C699Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C699F 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 0.926

C699F 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
684 14.7
685 14.2
686 13.7
687 13.2
688 12.6
689 12 R689C R689H
690 11.4
691 10.7 A691S A691T
692 10.1 Q692K
693 9.3 R693C R693H
694 8.5 Y694C
695 7.6
696 6.6
697 5.4
698 3.8
700 3.8
701 5.4 P701L
702 6.6
703 7.6
704 8.5
705 9.3 S705F
706 10.1
707 10.7
708 11.4
709 12
710 12.6
711 13.2
712 13.7
713 14.2
714 14.7 V714A