H617R Summary

SCN5A H617R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. H617R is not present in gnomAD. H617R has been functionally characterized in 0 papers. Other variants at the same resdue are H617D .H617L .H617N .H617P .H617Q .H617Q .H617R .H617Y . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

H617R 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 0.406

H617R 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
602 14.7
603 14.2
604 13.7 L604V
605 13.2
606 12.6
607 12 G607V
608 11.4 D608N
609 10.7
610 10.1
611 9.3
612 8.5
613 7.6
614 6.6
615 5.4 G615E
616 3.8
618 3.8 L618F
619 5.4 L619F
620 6.6 R620C R620H
621 7.6
622 8.5
623 9.3
624 10.1 L624Q
625 10.7 E625D E625D
626 11.4
627 12 P627L
628 12.6
629 13.2
630 13.7 T630M
631 14.2
632 14.7 T632M