D945Y Summary

SCN5A D945Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D945Y is not present in gnomAD. D945Y has been functionally characterized in 0 papers. Other variants at the same resdue are D945A .D945E .D945E .D945G .D945H .D945N .D945V .D945Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D945Y 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 0.874

D945Y 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
930 14.7
931 14.2
932 13.7
933 13.2
934 12.6
935 12
936 11.4
937 10.7
938 10.1
939 9.3
940 8.5
941 7.6 S941N
942 6.6
943 5.4
944 3.8
946 3.8
947 5.4
948 6.6
949 7.6
950 8.5
951 9.3
952 10.1
953 10.7 D953E D953E
954 11.4
955 12
956 12.6
957 13.2
958 13.7
959 14.2 L959P
960 14.7