F816V Summary

SCN5A F816V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. F816V is not present in gnomAD. F816V has been functionally characterized in 0 papers. Other variants at the same resdue are F816C .F816I .F816L .F816L .F816L .F816S .F816V .F816Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

F816V 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 0.954

F816V has 59 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
723 14.7 I723V
724 13.4 T724I
727 10.8
728 13.2 V728I
730 12.7
731 11.1
734 12.3
760 14.2
780 12.4
781 9.4
782 14.4
783 13.6
784 7.7
785 10.8 D785N
786 14.1
787 11.6
788 10
789 14.5 V789I
791 13.6
792 14.7
809 11.6
810 11.1
811 12.5 R811H
812 7.1
813 5.6
814 8.9 R814Q
815 4.5
817 7.5
818 7.2
819 6.7
820 10.5
821 11
822 11.6
823 13.9
824 13.2
825 8.9
826 11.2
827 14.2
828 11.3
829 9
830 14.7
832 12.1
833 13.8 G833R G833R
1339 13.4 p.L1339del
1340 11.4 V1340I
1341 13.6
1342 13.2
1343 8.8
1344 8.1
1345 13.8 W1345C W1345C
1346 11 L1346P
1347 7.3
1348 10.8
1349 13.6
1350 12.2
1351 11.9
1452 14.3
1456 11.8
1460 14.6