E795V Summary

SCN5A E795V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E795V is not present in gnomAD. E795V has been functionally characterized in 0 papers. Other variants at the same resdue are E795A .E795D .E795D .E795G .E795K .E795Q .E795V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

E795V 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 0.985

E795V has 45 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
730 13.3
734 12.5
737 14
749 13.4
750 10.3
751 13.8 V751I
752 12.7 G752R G752R
753 9.2
754 10.1
755 13.9
756 13.8
757 9.5
758 13
760 13.3
761 13.5
786 14.7
787 13
788 10.9
789 10.6 V789I
790 10.3
791 7.3
792 5.5
793 7.2
794 6.4
796 4.3
797 6.1 G797V
798 5.7
799 5.8
800 8.5 R800C R800H R800L
801 11.1 p.801_803delMSN/insS
802 10.5
803 10.1
804 9.7
805 8.6 S805L
806 8.8
807 5.2
808 6.4 R808C
809 8.8
810 7.9
811 6.4 R811H
812 12
813 11.9
814 10.7 R814Q
1351 14.8
1354 11.9