E635V Summary

SCN5A E635V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E635V is not present in gnomAD. E635V has been functionally characterized in 0 papers. Other variants at the same resdue are E635A .E635D .E635D .E635G .E635K .E635Q .E635V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

E635V 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 0.546

E635V 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
620 14.7 R620C R620H
621 14.2
622 13.7
623 13.2
624 12.6 L624Q
625 12 E625D E625D
626 11.4
627 10.7 P627L
628 10.1
629 9.3
630 8.5 T630M
631 7.6
632 6.6 T632M
633 5.4
634 3.8 S634L
636 3.8
637 5.4
638 6.6
639 7.6 G639R G639R
640 8.5 P640A
641 9.3
642 10.1
643 10.7
644 11.4
645 12
646 12.6
647 13.2 A647D A647S A647V
648 13.7 P648L
649 14.2 C649Y
650 14.7