S577G Summary

SCN5A S577G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. S577G is not present in gnomAD. S577G has been functionally characterized in 0 papers. Other variants at the same resdue are S577C .S577G .S577I .S577N .S577R .S577R .S577R .S577T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

S577G 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 0.352

S577G 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
562 14.7
563 14.2
564 13.7
565 13.2
566 12.6
567 12 L567Q
568 11.4 R568C R568H
569 10.7 R569Q R569W
570 10.1 T570N
571 9.3 S571I
572 8.5 A572D A572F A572S A572V
573 7.6 Q573E
574 6.6
575 5.4
576 3.8
578 3.8
579 5.4 G579R G579R
580 6.6
581 7.6 S581L
582 8.5
583 9.3
584 10.1 G584R
585 10.7
586 11.4 A586T
587 12
588 12.6
589 13.2
590 13.7
591 14.2
592 14.7 N592K N592K N592S