I788V Summary

SCN5A I788V was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. I788V is present in 1 out of 249216 alleles in gnomAD (minor allele frequency of 0.000401%). I788V has been functionally characterized in 0 papers. Other variants at the same resdue are I788F .I788L .I788M .I788N .I788S .I788T .I788V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

I788V 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
Damaging 0.001 -0.99 possiblydamaging 0.476 0.3823 4.72 2 0.635

I788V has 58 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
720 15
723 12.2 I723V
724 14.2 T724I
726 13.3
727 10.8
730 11.4
731 13.6
734 13.1
753 12.6
754 14.5
755 14.7
756 12.3
757 9.1
758 11.4
759 12 I759V
760 7.5
761 9.4
762 12.3
763 12.2 E763K
764 8.8 M764K
765 12.8
767 13.1
768 13.6
776 12.7
777 13.1
779 14.9 Q779K
780 11.6
781 10.7
782 10.5
783 9.5
784 5.9
785 5.2 D785N
786 5.9
787 4.9
789 4.5 V789I
790 6.7
791 6
792 6.2
793 9.3
794 10.3
795 10.9
796 12.3
806 14.2
807 11.1
808 13.5 R808C
809 11.2
810 8.3
811 9.3 R811H
812 10
813 6
814 5.5 R814Q
815 10
816 10 F816Y
817 8.4
818 12.4
819 13.6
820 13.3
1347 14.6