F733S Summary

SCN5A F733S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. F733S is not present in gnomAD. F733S has been functionally characterized in 0 papers. Other variants at the same resdue are F733C .F733I .F733L .F733L .F733L .F733S .F733V .F733Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

F733S 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 0.956

F733S has 49 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 14.6 I723V
724 13.9 T724I
725 12.6
726 9.6
727 9.9
728 8.6 V728I
729 5.7
730 5.1
731 6.6
732 5.1
734 6.2
735 7 A735E A735T A735V
736 7.3
737 8.8
738 13.4
741 12.7
742 13.6
743 14.9
744 13.7
745 9.7
746 12.2 E746K
747 11.8
748 6.9
749 5.6
750 10
751 9.1 V751I
752 6.1 G752R G752R
753 7
754 11.2
755 10.2
756 7.6
757 11.9
758 14.1
759 13.1 I759V
760 12.7
792 15
808 12.7 R808C
811 10.3 R811H
812 12.7
814 10.9 R814Q
815 12.6
818 14.6
1346 13.7 L1346P
1349 14.7
1350 11.4
1353 13.3 V1353M
1354 13.3
1404 14.9
1405 13 V1405L V1405L V1405M