D872H Summary

SCN5A D872H was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D872H is not present in gnomAD. D872H has been functionally characterized in 0 papers. Other variants at the same resdue are D872A .D872E .D872E .D872G .D872H .D872N .D872V .D872Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D872H 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 0.573

D872H has 27 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
321 12.2
322 9.6
323 14.1
346 13.7 E346K
347 14.5
348 13.5
349 10.8 D349N
350 9.4
351 13.3 G351S G351V
352 14.7
865 14
868 11.9
869 12.7
870 7.6
871 4.5
873 4.1
874 6.1 G874D
875 10.2
876 11.6
877 10.7
878 13.1 R878C R878H
901 13.2 E901K
904 13.7
905 10.4
906 15
908 9.6
909 12.4