I768F Summary

SCN5A I768F was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. I768F is not present in gnomAD. I768F has been functionally characterized in 0 papers. Other variants at the same resdue are I768F .I768L .I768M .I768N .I768S .I768T .I768V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

I768F 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 0.734

I768F has 39 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 10.3
711 11.9
713 13.2
714 11 V714A
715 14.8
719 14.4
720 14.7
758 14.4
759 14.6 I759V
760 13.3
761 10.3
762 9.6
763 9.7 E763K
764 6.4 M764K
765 5.4
766 7.6
767 6
769 4.8
770 6.4
771 6.2
772 6.9 D772N
773 5.7
774 10 Y774C
775 10.2
776 5
777 7.4
778 11.9
779 12.1 Q779K
780 13.2
781 14.7
782 8.4
783 10.8
784 13.9
785 10.5 D785N
786 8.8
787 13
788 13.6
789 11.1 V789I
790 12.6