A1294T Summary
SCN5A A1294T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1294T is not present in gnomAD. A1294T has been functionally characterized in 0 papers. Other variants at the same resdue are A1294D .A1294G .A1294P .A1294S .A1294T .A1294V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1294T 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 |
0.519 |
A1294T 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 |
| 1287 |
14.9 |
|
| 1288 |
11.8 |
|
| 1289 |
12.7 |
|
| 1290 |
11 |
|
| 1291 |
7.6 |
|
| 1292 |
5.1 |
|
| 1293 |
4.6 |
F1293S |
| 1295 |
4.8 |
E1295K |
| 1296 |
4.9 |
|
| 1297 |
8.1 |
|
| 1298 |
10.6 |
P1298L |
| 1299 |
13.6 |
|
| 1734 |
14 |
|
| 1735 |
14.4 |
|
| 1736 |
14.5 |
|