A1856G Summary
SCN5A A1856G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1856G is not present in gnomAD. A1856G has been functionally characterized in 0 papers. Other variants at the same resdue are A1856D .A1856G .A1856P .A1856S .A1856T .A1856V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1856G 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 |
0.932 |
A1856G has 61 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 |
| 1494 |
12.5 |
|
| 1497 |
12.1 |
|
| 1498 |
11 |
M1498R M1498T |
| 1500 |
14.1 |
|
| 1501 |
9.4 |
L1501V |
| 1502 |
13.5 |
G1502A G1502S |
| 1504 |
14.9 |
|
| 1785 |
14.5 |
|
| 1786 |
12.3 |
L1786Q |
| 1790 |
14.2 |
D1790G D1790N |
| 1791 |
12.3 |
|
| 1794 |
10.9 |
|
| 1795 |
13.9 |
p.Y1795_E1796insD Y1795C Y1795H |
| 1798 |
13.8 |
|
| 1809 |
13.6 |
|
| 1811 |
14.1 |
|
| 1814 |
11.3 |
|
| 1815 |
14 |
|
| 1817 |
11.8 |
|
| 1818 |
11.2 |
|
| 1821 |
12.2 |
|
| 1822 |
14.5 |
|
| 1824 |
12 |
|
| 1825 |
9.2 |
L1825P |
| 1826 |
14.3 |
R1826C R1826H |
| 1827 |
10.3 |
|
| 1828 |
14.8 |
A1828T |
| 1831 |
13.2 |
|
| 1832 |
14.3 |
Q1832E |
| 1833 |
14.5 |
|
| 1834 |
10.3 |
|
| 1835 |
9.1 |
|
| 1836 |
11.8 |
I1836T |
| 1837 |
10.1 |
|
| 1838 |
5.4 |
|
| 1839 |
6.5 |
|
| 1840 |
6.9 |
|
| 1841 |
10 |
|
| 1842 |
13.8 |
M1842L M1842L |
| 1848 |
10.8 |
|
| 1849 |
11.6 |
H1849R |
| 1850 |
10.5 |
|
| 1851 |
9.8 |
|
| 1852 |
7.1 |
|
| 1853 |
5.9 |
|
| 1854 |
6.6 |
|
| 1855 |
4.3 |
|
| 1857 |
4.2 |
|
| 1858 |
5.6 |
|
| 1859 |
5.3 |
|
| 1860 |
7 |
|
| 1861 |
8.7 |
|
| 1862 |
9.7 |
|
| 1863 |
10.6 |
|
| 1864 |
11.5 |
|
| 1865 |
14 |
|
| 1866 |
14.1 |
|
| 1874 |
14.5 |
|
| 1876 |
13.1 |
|
| 1877 |
12.1 |
|
| 1880 |
11.7 |
M1880V |