E1107D Summary

SCN5A E1107D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1107D is not present in gnomAD. E1107D has been functionally characterized in 0 papers. Other variants at the same resdue are E1107A .E1107D .E1107D .E1107G .E1107K .E1107Q .E1107V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1107D 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 0.409

E1107D 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
1092 14.7
1093 14.2
1094 13.7
1095 13.2 W1095C W1095C
1096 12.6
1097 12
1098 11.4 V1098L V1098L V1098M
1099 10.7
1100 10.1 A1100V
1101 9.3
1102 8.5 A1102T
1103 7.6 S1103F S1103Y
1104 6.6
1105 5.4
1106 3.8 A1106T
1108 3.8
1109 5.4 S1109G
1110 6.6
1111 7.6
1112 8.5
1113 9.3 A1113V
1114 10.1 D1114E D1114E D1114N
1115 10.7
1116 11.4 R1116Q R1116W
1117 12
1118 12.6
1119 13.2
1120 13.7
1121 14.2 A1121V
1122 14.7