D870N Summary

SCN5A D870N was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D870N is not present in gnomAD. D870N has been functionally characterized in 0 papers. Other variants at the same resdue are D870A .D870E .D870E .D870G .D870H .D870N .D870V .D870Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D870N 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 0.379

D870N has 23 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
350 12.6
863 14.6
864 11.7
865 10.9
866 10.7 S866L
867 10.7
868 5.3
869 6.8
871 4.2
872 7.6 D872N
873 6.9
874 6 G874D
875 7.9
876 10.4
877 11.6
880 14.8
905 11.6
906 13.7
907 15
908 8.7
909 8.8
910 12.6 S910L
911 14.1