D951H Summary

SCN5A D951H was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D951H is not present in gnomAD. D951H has been functionally characterized in 0 papers. Other variants at the same resdue are D951A .D951E .D951E .D951G .D951H .D951N .D951V .D951Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D951H 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 0.861

D951H 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
936 14.7
937 14.2
938 13.7
939 13.2
940 12.6
941 12 S941N
942 11.4
943 10.7
944 10.1
945 9.3 D945G
946 8.5
947 7.6
948 6.6
949 5.4
950 3.8
952 3.8
953 5.4 D953E D953E
954 6.6
955 7.6
956 8.5
957 9.3
958 10.1
959 10.7 L959P
960 11.4
961 12
962 12.6
963 13.2
964 13.7
965 14.2 R965C R965H
966 14.7