A1778G Summary
SCN5A A1778G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1778G is not present in gnomAD. A1778G has been functionally characterized in 0 papers. Other variants at the same resdue are A1778D .A1778G .A1778P .A1778S .A1778T .A1778V .
This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.
A1778G 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 |
0.945 |
A1778G has 57 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 |
| 249 |
14 |
|
| 407 |
12.5 |
|
| 410 |
11 |
|
| 411 |
12.1 |
V411M |
| 413 |
13.3 |
A413T |
| 414 |
10.1 |
|
| 415 |
14.3 |
|
| 417 |
14.8 |
|
| 418 |
14.2 |
|
| 1474 |
13.8 |
|
| 1477 |
12.9 |
|
| 1489 |
12.1 |
E1489D E1489D |
| 1490 |
14.1 |
|
| 1492 |
11.8 |
|
| 1493 |
9.5 |
K1493R p.K1493del |
| 1495 |
14.8 |
|
| 1496 |
10.4 |
|
| 1497 |
12.5 |
|
| 1500 |
11.6 |
|
| 1640 |
14.8 |
|
| 1641 |
11.7 |
|
| 1642 |
10.4 |
|
| 1643 |
12.1 |
|
| 1644 |
11.7 |
R1644C R1644H |
| 1645 |
6.8 |
T1645M |
| 1646 |
8.5 |
|
| 1647 |
11 |
|
| 1648 |
7.4 |
|
| 1649 |
6.7 |
|
| 1650 |
10.4 |
|
| 1651 |
11.7 |
|
| 1652 |
8.1 |
|
| 1653 |
11.4 |
|
| 1654 |
14.8 |
|
| 1769 |
14.3 |
|
| 1770 |
13.2 |
|
| 1771 |
11.5 |
|
| 1772 |
11.1 |
|
| 1773 |
9.8 |
|
| 1774 |
7.1 |
|
| 1775 |
5.9 |
|
| 1776 |
5.6 |
|
| 1777 |
4.1 |
V1777M |
| 1779 |
3.9 |
T1779M |
| 1780 |
6.2 |
|
| 1781 |
4.6 |
E1781G |
| 1782 |
6.1 |
|
| 1783 |
8.6 |
|
| 1784 |
11.8 |
E1784K |
| 1785 |
9.2 |
|
| 1786 |
10.4 |
L1786Q |
| 1787 |
7.7 |
S1787N |
| 1788 |
9.7 |
|
| 1789 |
11.2 |
|
| 1790 |
11.8 |
D1790G D1790N |
| 1791 |
13 |
|
| 1792 |
14.4 |
D1792N |