L663H Summary

SCN5A L663H was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L663H is not present in gnomAD. L663H has been functionally characterized in 0 papers. Other variants at the same resdue are L663F .L663H .L663I .L663P .L663R .L663V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L663H 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 0.624

L663H 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
648 14.7 P648L
649 14.2 C649Y
650 13.7
651 13.2
652 12.6
653 12
654 11.4 E654K
655 10.7 E655K
656 10.1 P656L
657 9.3
658 8.5
659 7.6 R659Q R659W
660 6.6
661 5.4 R661W
662 3.8 A662S
664 3.8 S664G
665 5.4 A665S A665T
666 6.6
667 7.6
668 8.5 V668I
669 9.3
670 10.1
671 10.7
672 11.4 A672T
673 12
674 12.6
675 13.2
676 13.7
677 14.2
678 14.7