E1087K Summary

SCN5A E1087K was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1087K is not present in gnomAD. E1087K has been functionally characterized in 0 papers. Other variants at the same resdue are E1087A .E1087D .E1087D .E1087G .E1087K .E1087Q .E1087V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1087K 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 0.542

E1087K 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
1072 14.7 p.E1072del
1073 14.2
1074 13.7
1075 13.2
1076 12.6
1077 12
1078 11.4
1079 10.7 S1079F S1079T
1080 10.1
1081 9.3
1082 8.5 V1082A
1083 7.6
1084 6.6 G1084S
1085 5.4
1086 3.8
1088 3.8 A1088T
1089 5.4
1090 6.6 P1090L
1091 7.6
1092 8.5
1093 9.3
1094 10.1
1095 10.7 W1095C W1095C
1096 11.4
1097 12
1098 12.6 V1098L V1098L V1098M
1099 13.2
1100 13.7 A1100V
1101 14.2
1102 14.7 A1102T