D953E Summary

SCN5A D953E was found in 0 papers (see below) with a total of 2 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D953E is present in 2 out of 248594 alleles in gnomAD (minor allele frequency of 0.000805%). D953E has been functionally characterized in 0 papers. Other variants at the same resdue are D953A .D953E .D953E .D953G .D953H .D953N .D953V .D953Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D953E 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
Tolerated 0.07 -3.68 probablydamaging 1 1.033 2.54 2 0.483

D953E 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
938 14.7
939 14.2
940 13.7
941 13.2 S941N
942 12.6
943 12
944 11.4
945 10.7 D945G
946 10.1
947 9.3
948 8.5
949 7.6
950 6.6
951 5.4
952 3.8
954 3.8
955 5.4
956 6.6
957 7.6
958 8.5
959 9.3 L959P
960 10.1
961 10.7
962 11.4
963 12
964 12.6
965 13.2 R965C R965H
966 13.7
967 14.2
968 14.7