A1882T Summary
SCN5A A1882T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1882T is not present in gnomAD. A1882T has been functionally characterized in 0 papers. Other variants at the same resdue are A1882D .A1882G .A1882P .A1882S .A1882T .A1882V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1882T 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 |
0.416 |
A1882T has 15 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 |
| 1873 |
12.1 |
|
| 1874 |
13.3 |
|
| 1875 |
10.2 |
p.M1875dup |
| 1876 |
10.3 |
|
| 1877 |
10.1 |
|
| 1878 |
7.4 |
|
| 1879 |
6.2 |
|
| 1880 |
7.3 |
M1880V |
| 1881 |
3.6 |
|
| 1883 |
3.9 |
|
| 1884 |
5 |
P1884L |
| 1885 |
4.7 |
|
| 1886 |
6.3 |
|
| 1887 |
8.2 |
|
| 1888 |
12.3 |
|