D1057A Summary
SCN5A D1057A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1057A is not present in gnomAD. D1057A has been functionally characterized in 0 papers. Other variants at the same resdue are D1057A .D1057E .D1057E .D1057G .D1057H .D1057N .D1057V .D1057Y .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D1057A 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 |
0.54 |
D1057A 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 |
1042 |
14.7 |
|
1043 |
14.2 |
|
1044 |
13.7 |
|
1045 |
13.2 |
V1045M |
1046 |
12.6 |
|
1047 |
12 |
|
1048 |
11.4 |
|
1049 |
10.7 |
|
1050 |
10.1 |
A1050T |
1051 |
9.3 |
|
1052 |
8.5 |
|
1053 |
7.6 |
E1053K |
1054 |
6.6 |
|
1055 |
5.4 |
|
1056 |
3.8 |
|
1058 |
3.8 |
|
1059 |
5.4 |
|
1060 |
6.6 |
|
1061 |
7.6 |
E1061D E1061D |
1062 |
8.5 |
|
1063 |
9.3 |
|
1064 |
10.1 |
p.E1064del |
1065 |
10.7 |
|
1066 |
11.4 |
S1066G |
1067 |
12 |
|
1068 |
12.6 |
G1068D |
1069 |
13.2 |
T1069M |
1070 |
13.7 |
|
1071 |
14.2 |
E1071K |
1072 |
14.7 |
p.E1072del |