D1114E Summary

SCN5A D1114E was found in 2 papers (see below) with a total of 10 carriers: 0 had BrS1, 6 had LQT3, and 0 had other disease. D1114E is present in 1 out of 239156 alleles in gnomAD (minor allele frequency of 0.000418%). D1114E has been functionally characterized in 0 papers. Other variants at the same resdue are D1114A .D1114E .D1114E .D1114G .D1114H .D1114N .D1114V .D1114Y . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

D1114E Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
2666966120163060
27566755201600150
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

D1114E 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 0.088 -0.71 benign 0 1 2.89 2 0.27

D1114E 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
1099 14.7
1100 14.2 A1100V
1101 13.7
1102 13.2 A1102T
1103 12.6 S1103F S1103Y
1104 12
1105 11.4
1106 10.7 A1106T
1107 10.1 E1107K
1108 9.3
1109 8.5 S1109G
1110 7.6
1111 6.6
1112 5.4
1113 3.8 A1113V
1115 3.8
1116 5.4 R1116Q R1116W
1117 6.6
1118 7.6
1119 8.5
1120 9.3
1121 10.1 A1121V
1122 10.7
1123 11.4
1124 12
1125 12.6 A1125G A1125V
1126 13.2
1127 13.7
1128 14.2
1129 14.7 G1129S