A1818S Summary
SCN5A A1818S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1818S is not present in gnomAD. A1818S has been functionally characterized in 0 papers. Other variants at the same resdue are A1818D .A1818G .A1818P .A1818S .A1818T .A1818V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1818S 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 |
0.83 |
A1818S has 53 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 |
| 1790 |
13.5 |
D1790G D1790N |
| 1791 |
14.4 |
|
| 1793 |
11.7 |
M1793K |
| 1794 |
9.2 |
|
| 1795 |
13.2 |
p.Y1795_E1796insD Y1795C Y1795H |
| 1796 |
14 |
|
| 1797 |
8.9 |
|
| 1798 |
10.7 |
|
| 1800 |
12.4 |
|
| 1801 |
9.5 |
|
| 1802 |
14.6 |
|
| 1809 |
10.7 |
|
| 1810 |
13.2 |
|
| 1811 |
11.6 |
|
| 1812 |
11.5 |
S1812L |
| 1813 |
9 |
|
| 1814 |
6.2 |
|
| 1815 |
5.3 |
|
| 1816 |
6.4 |
|
| 1817 |
4.3 |
|
| 1819 |
4.6 |
D1819N |
| 1820 |
5.3 |
A1820T |
| 1821 |
4.8 |
|
| 1822 |
8.7 |
|
| 1823 |
10.8 |
E1823K |
| 1824 |
10.8 |
|
| 1825 |
7.7 |
L1825P |
| 1826 |
6.9 |
R1826C R1826H |
| 1827 |
4.4 |
|
| 1828 |
6.7 |
A1828T |
| 1829 |
7.7 |
|
| 1830 |
10.5 |
|
| 1831 |
6.8 |
|
| 1832 |
10.5 |
Q1832E |
| 1833 |
13 |
|
| 1834 |
9.9 |
|
| 1835 |
7.9 |
|
| 1836 |
13.1 |
I1836T |
| 1837 |
13.9 |
|
| 1838 |
11.2 |
|
| 1840 |
11.8 |
|
| 1848 |
12.1 |
|
| 1850 |
13 |
|
| 1852 |
13.9 |
|
| 1853 |
9.1 |
|
| 1854 |
11.8 |
|
| 1855 |
14.9 |
|
| 1856 |
11.2 |
|
| 1857 |
7.2 |
|
| 1858 |
12.4 |
|
| 1860 |
10.2 |
|
| 1861 |
12.5 |
|
| 1864 |
13.6 |
|