G579R Summary

SCN5A G579R was found in 2 papers (see below) with a total of 23 carriers: 0 had BrS1, 1 had LQT3, and 0 had other disease. G579R is present in 21 out of 280032 alleles in gnomAD (minor allele frequency of 0.007499%). G579R 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.

G579R Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
1641494420050010
2012928320101000
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

G579R 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
Tolerated 0.44 -0.34 benign 0.08 3.769 0.49 -9 0.55

G579R 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