D651H Summary

SCN5A D651H was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. D651H is present in 1 out of 31380 alleles in gnomAD (minor allele frequency of 0.003187%). D651H has been functionally characterized in 0 papers. Other variants at the same resdue are D651A .D651E .D651E .D651G .D651H .D651N .D651V .D651Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D651H 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
Damaging 0 -3.85 possiblydamaging 0.918 2.201 0.4 -4 0.683

D651H 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
636 14.7
637 14.2
638 13.7
639 13.2 G639R G639R
640 12.6 P640A
641 12
642 11.4
643 10.7
644 10.1
645 9.3
646 8.5
647 7.6 A647D A647S A647V
648 6.6 P648L
649 5.4 C649Y
650 3.8
652 3.8
653 5.4
654 6.6 E654K
655 7.6 E655K
656 8.5 P656L
657 9.3
658 10.1
659 10.7 R659Q R659W
660 11.4
661 12 R661W
662 12.6 A662S
663 13.2
664 13.7 S664G
665 14.2 A665S A665T
666 14.7