D1819E Summary
SCN5A D1819E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1819E is not present in gnomAD. D1819E has been functionally characterized in 0 papers. Other variants at the same resdue are D1819A .D1819E .D1819E .D1819G .D1819H .D1819N .D1819V .D1819Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D1819E 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 |
0.609 |
D1819E has 36 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 |
1793 |
12.6 |
M1793K |
1794 |
12.3 |
|
1796 |
15 |
|
1797 |
10.1 |
|
1798 |
13.7 |
|
1800 |
12.5 |
|
1801 |
10.6 |
|
1809 |
13.9 |
|
1811 |
14.3 |
|
1812 |
13 |
S1812L |
1813 |
10.6 |
|
1814 |
9.5 |
|
1815 |
6.4 |
|
1816 |
5.9 |
|
1817 |
7.4 |
|
1818 |
4.6 |
|
1820 |
4.4 |
A1820T |
1821 |
6.4 |
|
1822 |
8.9 |
|
1823 |
10.3 |
E1823K |
1824 |
12.1 |
|
1825 |
10.2 |
L1825P |
1826 |
6.1 |
R1826C R1826H |
1827 |
6.3 |
|
1828 |
5.1 |
A1828T |
1829 |
5.1 |
|
1830 |
9 |
|
1831 |
7.5 |
|
1832 |
12 |
Q1832E |
1833 |
14.3 |
|
1834 |
12.1 |
|
1835 |
11 |
|
1838 |
15 |
|
1853 |
13.6 |
|
1857 |
11.4 |
|
1860 |
13 |
|