A1820D Summary
SCN5A A1820D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1820D is not present in gnomAD. A1820D has been functionally characterized in 0 papers. Other variants at the same resdue are A1820D .A1820G .A1820P .A1820S .A1820T .A1820V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1820D 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 |
0.852 |
A1820D has 43 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 |
1638 |
14.3 |
R1638Q |
1789 |
14.1 |
|
1790 |
12.4 |
D1790G D1790N |
1791 |
14.3 |
|
1792 |
13.8 |
D1792N |
1793 |
8.6 |
M1793K |
1794 |
9.2 |
|
1795 |
12.6 |
p.Y1795_E1796insD Y1795C Y1795H |
1796 |
10.6 |
|
1797 |
5.9 |
|
1798 |
10.7 |
|
1799 |
12.4 |
|
1800 |
8.8 |
|
1801 |
8.1 |
|
1802 |
14 |
|
1809 |
12.8 |
|
1812 |
14 |
S1812L |
1813 |
10.6 |
|
1814 |
10.2 |
|
1815 |
8.7 |
|
1816 |
7 |
|
1817 |
5.6 |
|
1818 |
5.3 |
|
1819 |
4.4 |
D1819N |
1821 |
3.9 |
|
1822 |
6.7 |
|
1823 |
9.9 |
E1823K |
1824 |
11.5 |
|
1825 |
9 |
L1825P |
1826 |
6.5 |
R1826C R1826H |
1827 |
8.4 |
|
1828 |
8.8 |
A1828T |
1829 |
9.3 |
|
1830 |
13.3 |
|
1831 |
11.1 |
|
1834 |
14.9 |
|
1835 |
13.2 |
|
1850 |
14.9 |
|
1853 |
12.6 |
|
1854 |
14 |
|
1857 |
11.2 |
|
1860 |
14.2 |
|
1861 |
14.9 |
|