L804W Summary

SCN5A L804W was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L804W is not present in gnomAD. L804W has been functionally characterized in 0 papers. Other variants at the same resdue are L804F .L804F .L804M .L804S .L804V .L804W . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L804W 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 0.92

L804W has 25 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
791 12.9
792 14.3
794 11.1
795 9.7
796 12.8
797 10.6 G797V
798 6.8
799 9.5
800 13.6 R800C R800H R800L
801 10.8 p.801_803delMSN/insS
802 7.5
803 4.3
805 4 S805L
806 5.7
807 7.1
808 10 R808C
809 10.7
810 11.1
811 13.4 R811H
1354 12.8
1355 12.9
1434 14.5
1443 15 N1443S
1445 13.9 Y1445H
1446 14.1