Q573H Summary

SCN5A Q573H was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. Q573H is not present in gnomAD. Q573H has been functionally characterized in 0 papers. Other variants at the same resdue are Q573E .Q573H .Q573H .Q573K .Q573L .Q573P .Q573R . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

Q573H 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 0.489

Q573H 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
558 14.7 H558R
559 14.2 T559I
560 13.7
561 13.2
562 12.6
563 12
564 11.4
565 10.7
566 10.1
567 9.3 L567Q
568 8.5 R568C R568H
569 7.6 R569Q R569W
570 6.6 T570N
571 5.4 S571I
572 3.8 A572D A572F A572S A572V
574 3.8
575 5.4
576 6.6
577 7.6
578 8.5
579 9.3 G579R G579R
580 10.1
581 10.7 S581L
582 11.4
583 12
584 12.6 G584R
585 13.2
586 13.7 A586T
587 14.2
588 14.7