E1032K Summary

SCN5A E1032K was found in 1 paper (see below) with a total of 15 carriers: 0 had BrS1, 1 had LQT3, and 0 had other disease. E1032K is present in 13 out of 279938 alleles in gnomAD (minor allele frequency of 0.004644%). E1032K has been functionally characterized in 0 papers. Other variants at the same resdue are E1032A .E1032D .E1032D .E1032G .E1032K .E1032Q .E1032V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1032K Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
2666966120161010
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

E1032K 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 0.488 0 benign 0 3.767 0.01 -4 0.387

E1032K 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
1017 14.7
1018 14.2
1019 13.7
1020 13.2
1021 12.6 P1021S
1022 12
1023 11.4 R1023C R1023H R1023P
1024 10.7
1025 10.1
1026 9.3
1027 8.5 R1027Q
1028 7.6
1029 6.6
1030 5.4
1031 3.8
1033 3.8 Q1033R
1034 5.4
1035 6.6
1036 7.6
1037 8.5
1038 9.3
1039 10.1
1040 10.7 G1040R G1040R
1041 11.4 D1041N
1042 12
1043 12.6
1044 13.2
1045 13.7 V1045M
1046 14.2
1047 14.7