E636Q Summary

SCN5A E636Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E636Q is not present in gnomAD. E636Q has been functionally characterized in 0 papers. Other variants at the same resdue are E636A .E636D .E636D .E636G .E636K .E636Q .E636V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

E636Q 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 0.509

E636Q 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
621 14.7
622 14.2
623 13.7
624 13.2 L624Q
625 12.6 E625D E625D
626 12
627 11.4 P627L
628 10.7
629 10.1
630 9.3 T630M
631 8.5
632 7.6 T632M
633 6.6
634 5.4 S634L
635 3.8
637 3.8
638 5.4
639 6.6 G639R G639R
640 7.6 P640A
641 8.5
642 9.3
643 10.1
644 10.7
645 11.4
646 12
647 12.6 A647D A647S A647V
648 13.2 P648L
649 13.7 C649Y
650 14.2
651 14.7