E1548G Summary
SCN5A E1548G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1548G is not present in gnomAD. E1548G has been functionally characterized in 0 papers. Other variants at the same resdue are E1548A .E1548D .E1548D .E1548G .E1548K .E1548Q .E1548V .G1548K .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
E1548G 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 |
0.963 |
E1548G has 54 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 |
| 262 |
14 |
|
| 263 |
14.5 |
V263I |
| 265 |
11.8 |
|
| 266 |
8.8 |
|
| 267 |
12.1 |
|
| 268 |
10.9 |
|
| 269 |
6.9 |
|
| 270 |
6.6 |
Q270K |
| 271 |
11.8 |
|
| 272 |
12.9 |
|
| 273 |
7.1 |
|
| 274 |
12.1 |
|
| 275 |
13.9 |
|
| 277 |
14.8 |
|
| 354 |
13.8 |
|
| 355 |
12.3 |
F355I |
| 356 |
9.3 |
D356N |
| 357 |
9 |
|
| 358 |
9.6 |
|
| 359 |
12.6 |
|
| 360 |
14.7 |
|
| 361 |
12.3 |
|
| 1540 |
13.7 |
|
| 1541 |
11 |
|
| 1542 |
11.1 |
|
| 1543 |
9.7 |
V1543A V1543L V1543L |
| 1544 |
7.2 |
|
| 1545 |
6.2 |
|
| 1546 |
7.5 |
|
| 1547 |
4.7 |
|
| 1549 |
5.1 |
|
| 1550 |
8.5 |
|
| 1551 |
9.4 |
D1551N |
| 1552 |
8.4 |
|
| 1553 |
10 |
|
| 1554 |
11.9 |
|
| 1555 |
12.9 |
|
| 1556 |
8.3 |
|
| 1557 |
8.4 |
|
| 1558 |
12.1 |
|
| 1559 |
10.9 |
I1559V |
| 1560 |
7 |
L1560F L1560F |
| 1561 |
10.9 |
|
| 1562 |
14 |
|
| 1563 |
11.2 |
|
| 1564 |
10.8 |
|
| 1567 |
14.3 |
|
| 1619 |
12.9 |
|
| 1620 |
14 |
T1620K T1620M |
| 1622 |
13.9 |
|
| 1623 |
9.8 |
R1623L R1623Q |
| 1624 |
14.5 |
V1624I |
| 1626 |
12.1 |
R1626C R1626H R1626P |
| 1627 |
12.6 |
|