A1497D Summary
SCN5A A1497D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1497D is not present in gnomAD. A1497D has been functionally characterized in 0 papers. Other variants at the same resdue are A1497D .A1497G .A1497P .A1497S .A1497T .A1497V .
This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.
A1497D 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 |
0.952 |
A1497D has 58 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 |
| 1481 |
13.2 |
|
| 1482 |
13.9 |
|
| 1483 |
14.5 |
|
| 1488 |
14.9 |
|
| 1489 |
13.6 |
E1489D E1489D |
| 1490 |
12.4 |
|
| 1491 |
10.1 |
|
| 1492 |
8.8 |
|
| 1493 |
8.1 |
K1493R p.K1493del |
| 1494 |
5.9 |
|
| 1495 |
6.8 |
|
| 1496 |
4.7 |
|
| 1498 |
4.3 |
M1498R M1498T |
| 1499 |
6.4 |
|
| 1500 |
4.4 |
|
| 1501 |
5.6 |
L1501V |
| 1502 |
8.6 |
G1502A G1502S |
| 1503 |
9.3 |
|
| 1504 |
10.5 |
|
| 1648 |
14.5 |
|
| 1652 |
14.8 |
|
| 1777 |
12.3 |
V1777M |
| 1778 |
12.5 |
|
| 1779 |
14.9 |
T1779M |
| 1780 |
13.3 |
|
| 1781 |
8.3 |
E1781G |
| 1782 |
12.3 |
|
| 1783 |
12.8 |
|
| 1784 |
10.5 |
E1784K |
| 1785 |
7.6 |
|
| 1786 |
6.9 |
L1786Q |
| 1787 |
9.2 |
S1787N |
| 1788 |
9.9 |
|
| 1789 |
13.5 |
|
| 1790 |
10.8 |
D1790G D1790N |
| 1791 |
7.7 |
|
| 1792 |
13.1 |
D1792N |
| 1794 |
13.1 |
|
| 1795 |
13.9 |
p.Y1795_E1796insD Y1795C Y1795H |
| 1824 |
13.3 |
|
| 1825 |
12.5 |
L1825P |
| 1850 |
14.7 |
|
| 1851 |
12.2 |
|
| 1852 |
14.8 |
|
| 1853 |
14.3 |
|
| 1854 |
9.7 |
|
| 1855 |
9.6 |
|
| 1856 |
12.1 |
|
| 1857 |
13.1 |
|
| 1858 |
7.5 |
|
| 1859 |
10.7 |
|
| 1860 |
14.9 |
|
| 1861 |
10.7 |
|
| 1862 |
9.3 |
|
| 1863 |
14 |
|
| 1865 |
13.8 |
|
| 1874 |
14.3 |
|
| 1876 |
11.9 |
|