E1773K Summary
SCN5A E1773K was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1773K is not present in gnomAD. E1773K has been functionally characterized in 0 papers. Other variants at the same resdue are E1773A .E1773D .E1773D .E1773G .E1773K .E1773Q .E1773V .
This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.
E1773K 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 |
0.957 |
E1773K has 70 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 |
403 |
14 |
|
406 |
11.4 |
N406K N406K N406S |
407 |
12.5 |
|
408 |
14.9 |
|
409 |
11.2 |
L409V |
410 |
9.4 |
|
411 |
12.9 |
V411M |
412 |
13.8 |
|
413 |
10.7 |
A413T |
414 |
11.6 |
|
415 |
14.9 |
|
417 |
13 |
|
935 |
13.7 |
|
936 |
13.2 |
|
939 |
10.8 |
|
940 |
14.3 |
|
943 |
13.6 |
|
1319 |
14.9 |
G1319V |
1322 |
11.9 |
|
1323 |
13.1 |
|
1326 |
12.6 |
|
1466 |
11.3 |
|
1467 |
11.2 |
|
1468 |
12.5 |
|
1469 |
10.3 |
|
1470 |
6.5 |
|
1471 |
8.7 |
|
1472 |
10.3 |
p.N1472del |
1473 |
6.9 |
F1473C |
1474 |
5.8 |
|
1475 |
10.6 |
|
1476 |
10.6 |
Q1476R |
1477 |
6.7 |
|
1478 |
10 |
|
1479 |
13.5 |
|
1480 |
12.5 |
|
1481 |
13 |
|
1482 |
13.5 |
|
1487 |
14.3 |
M1487L M1487L |
1489 |
11.6 |
E1489D E1489D |
1492 |
12.8 |
|
1493 |
13.9 |
K1493R p.K1493del |
1496 |
14.2 |
|
1646 |
13.6 |
|
1648 |
13.7 |
|
1649 |
10.3 |
|
1650 |
12.1 |
|
1652 |
10.3 |
|
1653 |
9.8 |
|
1654 |
14.3 |
|
1655 |
14.2 |
|
1656 |
11.8 |
|
1657 |
12.1 |
|
1660 |
14.3 |
I1660V |
1765 |
12.8 |
|
1766 |
11.5 |
M1766T M1766V |
1767 |
11.9 |
Y1767C |
1768 |
9.4 |
I1768V |
1769 |
5.7 |
|
1770 |
6.5 |
|
1771 |
7.4 |
|
1772 |
5.1 |
|
1774 |
5.2 |
|
1775 |
8 |
|
1776 |
5.5 |
|
1777 |
6.8 |
V1777M |
1778 |
9.8 |
|
1779 |
10.5 |
T1779M |
1780 |
10.8 |
|
1781 |
12.3 |
E1781G |