E1043K Summary
SCN5A E1043K was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1043K is present in 1 out of 248866 alleles in gnomAD (minor allele frequency of 0.000402%). E1043K has been functionally characterized in 0 papers. Other variants at the same resdue are E1043A .E1043D .E1043D .E1043G .E1043K .E1043Q .E1043V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
E1043K 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 |
0.366 |
-1.53 |
probablydamaging |
0.999 |
3.231 |
1.43 |
-4 |
0.485 |
E1043K 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 |
1028 |
14.7 |
|
1029 |
14.2 |
|
1030 |
13.7 |
|
1031 |
13.2 |
|
1032 |
12.6 |
E1032K |
1033 |
12 |
Q1033R |
1034 |
11.4 |
|
1035 |
10.7 |
|
1036 |
10.1 |
|
1037 |
9.3 |
|
1038 |
8.5 |
|
1039 |
7.6 |
|
1040 |
6.6 |
G1040R G1040R |
1041 |
5.4 |
D1041N |
1042 |
3.8 |
|
1044 |
3.8 |
|
1045 |
5.4 |
V1045M |
1046 |
6.6 |
|
1047 |
7.6 |
|
1048 |
8.5 |
|
1049 |
9.3 |
|
1050 |
10.1 |
A1050T |
1051 |
10.7 |
|
1052 |
11.4 |
|
1053 |
12 |
E1053K |
1054 |
12.6 |
|
1055 |
13.2 |
|
1056 |
13.7 |
|
1057 |
14.2 |
|
1058 |
14.7 |
|