S799P Summary

SCN5A S799P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. S799P is not present in gnomAD. S799P has been functionally characterized in 0 papers. Other variants at the same resdue are S799A .S799C .S799F .S799P .S799T .S799Y . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

S799P 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 0.605

S799P has 30 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
746 13.7 E746K
747 14.1
749 13.9
750 9.3
751 13.6 V751I
752 14.2 G752R G752R
753 11.3
754 10.7
757 12.9
791 12.7
792 10.7
793 10.6
794 10.1
795 5.8
796 5.6
797 4.9 G797V
798 5
800 4.9 R800C R800H R800L
801 6.7 p.801_803delMSN/insS
802 6
803 7.6
804 9.5
805 9.4 S805L
806 11.7
807 9.4
808 8.8 R808C
809 13.2
810 13.2
811 10.9 R811H
1354 13.8