H626R Summary

SCN5A H626R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. H626R is not present in gnomAD. H626R has been functionally characterized in 0 papers. Other variants at the same resdue are H626D .H626L .H626N .H626P .H626Q .H626Q .H626R .H626Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

H626R 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 0.446

H626R 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
611 14.7
612 14.2
613 13.7
614 13.2
615 12.6 G615E
616 12
617 11.4
618 10.7 L618F
619 10.1 L619F
620 9.3 R620C R620H
621 8.5
622 7.6
623 6.6
624 5.4 L624Q
625 3.8 E625D E625D
627 3.8 P627L
628 5.4
629 6.6
630 7.6 T630M
631 8.5
632 9.3 T632M
633 10.1
634 10.7 S634L
635 11.4
636 12
637 12.6
638 13.2
639 13.7 G639R G639R
640 14.2 P640A
641 14.7