E625K Summary

SCN5A E625K was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E625K is not present in gnomAD. E625K has been functionally characterized in 0 papers. Other variants at the same resdue are E625A .E625D .E625D .E625G .E625K .E625Q .E625V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E625K 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 0.486

E625K 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
610 14.7
611 14.2
612 13.7
613 13.2
614 12.6
615 12 G615E
616 11.4
617 10.7
618 10.1 L618F
619 9.3 L619F
620 8.5 R620C R620H
621 7.6
622 6.6
623 5.4
624 3.8 L624Q
626 3.8
627 5.4 P627L
628 6.6
629 7.6
630 8.5 T630M
631 9.3
632 10.1 T632M
633 10.7
634 11.4 S634L
635 12
636 12.6
637 13.2
638 13.7
639 14.2 G639R G639R
640 14.7 P640A