F777S Summary

SCN5A F777S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. F777S is not present in gnomAD. F777S has been functionally characterized in 0 papers. Other variants at the same resdue are F777C .F777I .F777L .F777L .F777L .F777S .F777V .F777Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

F777S 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 0.975

F777S has 29 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
714 15 V714A
761 14.9
763 15 E763K
764 10.3 M764K
765 12
766 14.7
767 10.5
768 7.4
769 11.8
770 11.9
771 9.2
772 8.6 D772N
773 5.4
774 7.9 Y774C
775 8.8
776 4.3
778 6.6
779 7.6 Q779K
780 8.1
781 11.7
782 6.2
783 5.4
784 11.1
785 9.9 D785N
786 7.6
787 10.3
788 13.1
789 12.5 V789I
790 12.2