G574E Summary

SCN5A G574E was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. G574E is present in 1 out of 248952 alleles in gnomAD (minor allele frequency of 0.000402%). G574E has been functionally characterized in 0 papers. Other variants at the same resdue are G574A .G574E .G574R .G574R .G574V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

G574E 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 0.137 -1.28 possiblydamaging 0.722 2.166 0.31 -4 0.425

G574E 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
559 14.7 T559I
560 14.2
561 13.7
562 13.2
563 12.6
564 12
565 11.4
566 10.7
567 10.1 L567Q
568 9.3 R568C R568H
569 8.5 R569Q R569W
570 7.6 T570N
571 6.6 S571I
572 5.4 A572D A572F A572S A572V
573 3.8 Q573E
575 3.8
576 5.4
577 6.6
578 7.6
579 8.5 G579R G579R
580 9.3
581 10.1 S581L
582 10.7
583 11.4
584 12 G584R
585 12.6
586 13.2 A586T
587 13.7
588 14.2
589 14.7