L619H Summary

SCN5A L619H was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L619H is not present in gnomAD. L619H has been functionally characterized in 0 papers. Other variants at the same resdue are L619F .L619H .L619I .L619P .L619R .L619V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

L619H 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 0.765

L619H 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
604 14.7 L604V
605 14.2
606 13.7
607 13.2 G607V
608 12.6 D608N
609 12
610 11.4
611 10.7
612 10.1
613 9.3
614 8.5
615 7.6 G615E
616 6.6
617 5.4
618 3.8 L618F
620 3.8 R620C R620H
621 5.4
622 6.6
623 7.6
624 8.5 L624Q
625 9.3 E625D E625D
626 10.1
627 10.7 P627L
628 11.4
629 12
630 12.6 T630M
631 13.2
632 13.7 T632M
633 14.2
634 14.7 S634L