S581W Summary

SCN5A S581W was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. S581W is not present in gnomAD. S581W has been functionally characterized in 0 papers. Other variants at the same resdue are S581A .S581L .S581P .S581T .S581W . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

S581W 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 0.391

S581W 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
566 14.7
567 14.2 L567Q
568 13.7 R568C R568H
569 13.2 R569Q R569W
570 12.6 T570N
571 12 S571I
572 11.4 A572D A572F A572S A572V
573 10.7 Q573E
574 10.1
575 9.3
576 8.5
577 7.6
578 6.6
579 5.4 G579R G579R
580 3.8
582 3.8
583 5.4
584 6.6 G584R
585 7.6
586 8.5 A586T
587 9.3
588 10.1
589 10.7
590 11.4
591 12
592 12.6 N592K N592K N592S
593 13.2
594 13.7
595 14.2
596 14.7