V789L Summary

SCN5A V789L was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. V789L is not present in gnomAD. V789L has been functionally characterized in 0 papers. Other variants at the same resdue are V789A .V789D .V789F .V789G .V789I .V789L . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

V789L 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 0.967

V789L has 54 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 12.9 I723V
726 14.1
727 13.1
730 13.3
752 14.8 G752R G752R
753 12.6
754 12.8
755 13.2
756 12.1
757 7.3
758 8.7
759 10.4 I759V
760 7
761 5.8
762 9.3
763 10.5 E763K
764 7 M764K
765 9.3
766 12.9
767 11.9
768 11.1
769 14.6
773 15
776 11.9
777 12.5
780 13.7
781 13.6
782 11.1
783 10.7
784 9.3
785 6.9 D785N
786 5.1
787 6.6
788 4.5
790 4.6
791 6.5
792 5.1
793 6.1
794 8.9
795 10.6
796 10.4
797 13 G797V
798 14.4
807 12.1
808 14.9 R808C
809 14
810 11
811 11.2 R811H
812 13.8
813 10.3
814 8.4 R814Q
815 14.1
816 14.5 F816Y
817 11.6