E1030A Summary
SCN5A E1030A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1030A is not present in gnomAD. E1030A has been functionally characterized in 0 papers. Other variants at the same resdue are E1030A .E1030D .E1030D .E1030G .E1030K .E1030Q .E1030V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
E1030A 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 |
0.55 |
E1030A 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 |
1015 |
14.7 |
|
1016 |
14.2 |
T1016M |
1017 |
13.7 |
|
1018 |
13.2 |
|
1019 |
12.6 |
|
1020 |
12 |
|
1021 |
11.4 |
P1021S |
1022 |
10.7 |
|
1023 |
10.1 |
R1023C R1023H R1023P |
1024 |
9.3 |
|
1025 |
8.5 |
|
1026 |
7.6 |
|
1027 |
6.6 |
R1027Q |
1028 |
5.4 |
|
1029 |
3.8 |
|
1031 |
3.8 |
|
1032 |
5.4 |
E1032K |
1033 |
6.6 |
Q1033R |
1034 |
7.6 |
|
1035 |
8.5 |
|
1036 |
9.3 |
|
1037 |
10.1 |
|
1038 |
10.7 |
|
1039 |
11.4 |
|
1040 |
12 |
G1040R G1040R |
1041 |
12.6 |
D1041N |
1042 |
13.2 |
|
1043 |
13.7 |
|
1044 |
14.2 |
|
1045 |
14.7 |
V1045M |