P576S Summary

SCN5A P576S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. P576S is not present in gnomAD. P576S has been functionally characterized in 0 papers. Other variants at the same resdue are P576A .P576H .P576L .P576R .P576S .P576T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

P576S 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 0.233

P576S 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
561 14.7
562 14.2
563 13.7
564 13.2
565 12.6
566 12
567 11.4 L567Q
568 10.7 R568C R568H
569 10.1 R569Q R569W
570 9.3 T570N
571 8.5 S571I
572 7.6 A572D A572F A572S A572V
573 6.6 Q573E
574 5.4
575 3.8
577 3.8
578 5.4
579 6.6 G579R G579R
580 7.6
581 8.5 S581L
582 9.3
583 10.1
584 10.7 G584R
585 11.4
586 12 A586T
587 12.6
588 13.2
589 13.7
590 14.2
591 14.7