F718I Summary

SCN5A F718I was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. F718I is not present in gnomAD. F718I has been functionally characterized in 0 papers. Other variants at the same resdue are F718C .F718I .F718L .F718L .F718L .F718S .F718V .F718Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

F718I 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 0.78

F718I has 19 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
710 13.1
711 14.3
712 11
713 8.2
714 10 V714A
715 10.5
716 4.7
717 3.6 P717L
719 5.9
720 7.9
721 6
722 7.5
723 10.4 I723V
724 11.2 T724I
725 10.6
726 13.4
763 12.8 E763K
767 14.1
821 14.5