G579V Summary

SCN5A G579V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. G579V is not present in gnomAD. G579V has been functionally characterized in 0 papers. Other variants at the same resdue are G579A .G579E .G579R .G579R .G579V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

G579V 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 0.254

G579V 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
564 14.7
565 14.2
566 13.7
567 13.2 L567Q
568 12.6 R568C R568H
569 12 R569Q R569W
570 11.4 T570N
571 10.7 S571I
572 10.1 A572D A572F A572S A572V
573 9.3 Q573E
574 8.5
575 7.6
576 6.6
577 5.4
578 3.8
580 3.8
581 5.4 S581L
582 6.6
583 7.6
584 8.5 G584R
585 9.3
586 10.1 A586T
587 10.7
588 11.4
589 12
590 12.6
591 13.2
592 13.7 N592K N592K N592S
593 14.2
594 14.7