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 |
|