D905H Summary

SCN5A D905H was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D905H is not present in gnomAD. D905H has been functionally characterized in 0 papers. Other variants at the same resdue are D905A .D905E .D905E .D905G .D905H .D905N .D905V .D905Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D905H 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 0.953

D905H has 64 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
347 14.7
348 13.8
349 10.1 D349N
350 6.7
351 11.7 G351S G351V
352 10.4
353 13.2 T353I
360 14.6
363 14.2
367 14.2 R367C R367H
372 14
373 13.7
376 14 R376H
857 13.7 G857D
860 14.7
861 11
862 12.4
864 11.3
865 8
866 13.8 S866L
867 14.7
868 11.2
869 13.7
870 11.6
871 8.3
872 10.4 D872N
873 13.2
874 11.6 G874D
875 12.1
876 10.3
877 7.3
878 10.5 R878C R878H
879 9.8 W879R W879R
880 10
881 10.2
882 13.8
886 13.3 H886P H886Q H886Q
887 13.5
889 14.4
890 10.4 I890T
891 13.9
893 11.3 R893C R893H
894 12.9
898 12.7
899 11.6
900 8.7
901 6.1 E901K
902 5.6
903 7.4
904 6.4
906 5.4
907 7.4
908 5.2
909 6.9
910 9.4 S910L
911 10.9
912 11.3 Q912R
913 13.2
914 13.6
915 9.3
916 12.3
918 13.7
919 10.7
1422 13.6