S805L Summary

SCN5A S805L was found in 0 papers (see below) with a total of 4 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. S805L is present in 4 out of 279788 alleles in gnomAD (minor allele frequency of 0.00143%). S805L has been functionally characterized in 0 papers. Other variants at the same resdue are S805A .S805L .S805P .S805T .S805W . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

S805L 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 -5.88 benign 0.016 0.6613 -2.97 -8 0.911

S805L has 38 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
734 14.9
737 13.8
791 12.4
792 13.3
794 11.8
795 8.6
796 12.3
797 11.6 G797V
798 8.2
799 9.4
800 14.1 R800C R800H R800L
801 12.9 p.801_803delMSN/insS
802 9
803 7.1
804 4
806 4.1
807 6.2
808 6.6 R808C
809 7.7
810 9.3
811 10.5 R811H
812 13
813 14.6
1350 14.2
1351 11.6
1352 12.3
1353 12.9 V1353M
1354 8.8
1355 9.4
1356 13.3
1357 13.5 A1357V
1359 14.3
1433 13.6 G1433W
1434 11.9
1443 14 N1443S
1445 13.2 Y1445H
1446 12.3
1449 14.3 Y1449C