V728L Summary

SCN5A V728L was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. V728L is not present in gnomAD. V728L has been functionally characterized in 0 papers. Other variants at the same resdue are V728A .V728E .V728G .V728I .V728L .V728L . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

V728L 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 0.803

V728L has 44 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
719 14.7
720 12.9
721 10.8
722 10.3
723 9.5 I723V
724 6.5 T724I
725 6.4
726 6.4
727 4.7
729 4.4
730 6.6
731 5.2
732 5.9
733 8.6 F733L F733L F733L
734 9.7
735 10.4 A735E A735T A735V
736 13.5
749 14.2
752 12.5 G752R G752R
753 13.1
755 14.2
756 9.9
757 14.5
759 13.1 I759V
760 11.8
811 14 R811H
812 13
813 14.7
814 10.5 R814Q
815 9.1
816 13.2 F816Y
817 10.5
818 7.7
819 12.6
820 14
821 10.3
822 10.6
825 14.5
1339 13.7 p.L1339del
1342 13.7
1343 11.7
1346 11.9 L1346P
1347 13.6
1350 13.5