E655V Summary

SCN5A E655V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E655V is not present in gnomAD. E655V has been functionally characterized in 0 papers. Other variants at the same resdue are E655A .E655D .E655D .E655G .E655K .E655Q .E655V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E655V 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 0.565

E655V 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
640 14.7 P640A
641 14.2
642 13.7
643 13.2
644 12.6
645 12
646 11.4
647 10.7 A647D A647S A647V
648 10.1 P648L
649 9.3 C649Y
650 8.5
651 7.6
652 6.6
653 5.4
654 3.8 E654K
656 3.8 P656L
657 5.4
658 6.6
659 7.6 R659Q R659W
660 8.5
661 9.3 R661W
662 10.1 A662S
663 10.7
664 11.4 S664G
665 12 A665S A665T
666 12.6
667 13.2
668 13.7 V668I
669 14.2
670 14.7