E654A Summary

SCN5A E654A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E654A is not present in gnomAD. E654A has been functionally characterized in 0 papers. Other variants at the same resdue are E654A .E654D .E654D .E654G .E654K .E654Q .E654V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E654A 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 0.562

E654A 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
639 14.7 G639R G639R
640 14.2 P640A
641 13.7
642 13.2
643 12.6
644 12
645 11.4
646 10.7
647 10.1 A647D A647S A647V
648 9.3 P648L
649 8.5 C649Y
650 7.6
651 6.6
652 5.4
653 3.8
655 3.8 E655K
656 5.4 P656L
657 6.6
658 7.6
659 8.5 R659Q R659W
660 9.3
661 10.1 R661W
662 10.7 A662S
663 11.4
664 12 S664G
665 12.6 A665S A665T
666 13.2
667 13.7
668 14.2 V668I
669 14.7