S809Y Summary

SCN5A S809Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. S809Y is not present in gnomAD. S809Y has been functionally characterized in 0 papers. Other variants at the same resdue are S809A .S809C .S809F .S809P .S809T .S809Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

S809Y 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 0.955

S809Y has 50 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 13.1
731 13.3
734 9.9
735 14.1 A735E A735T A735V
737 12
753 13
757 14.6
784 14.1
787 12.8
788 11.2
789 14 V789I
790 13.8
791 9.2
792 10.5
793 14.2
794 11.8
795 8.8
796 12.9
797 14.4 G797V
798 12.2
799 13.2
803 13.9
804 10.7
805 7.7 S805L
806 5.5
807 6.1
808 6 R808C
810 4
811 6.2 R811H
812 5.6
813 7.5
814 10 R814Q
815 11.1
816 11.6 F816Y
1346 13.8 L1346P
1347 9.9
1348 10.8
1349 11.8
1350 9.1
1351 6.6
1352 9.9
1353 10.8 V1353M
1354 7.4
1355 9.9
1356 13.2
1357 14 A1357V
1446 13.1
1448 14.4 I1448L
1449 11.4 Y1449C
1452 13.2