C700F Summary

SCN5A C700F was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C700F is not present in gnomAD. C700F has been functionally characterized in 0 papers. Other variants at the same resdue are C700F .C700G .C700R .C700S .C700S .C700W .C700Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C700F 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 0.858

C700F 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
685 14.7
686 14.2
687 13.7
688 13.2
689 12.6 R689C R689H
690 12
691 11.4 A691S A691T
692 10.7 Q692K
693 10.1 R693C R693H
694 9.3 Y694C
695 8.5
696 7.6
697 6.6
698 5.4
699 3.8
701 3.8 P701L
702 5.4
703 6.6
704 7.6
705 8.5 S705F
706 9.3
707 10.1
708 10.7
709 11.4
710 12
711 12.6
712 13.2
713 13.7
714 14.2 V714A
715 14.7