D1816N Summary
SCN5A D1816N was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1816N is present in 1 out of 249912 alleles in gnomAD (minor allele frequency of 0.0004%). D1816N has been functionally characterized in 0 papers. Other variants at the same resdue are D1816A .D1816E .D1816E .D1816G .D1816H .D1816N .D1816V .D1816Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D1816N 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 |
Tolerated |
0.083 |
-3.46 |
benign |
0.024 |
0.8776 |
1.1 |
2 |
0.382 |
D1816N 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 |
14.9 |
M1793K |
1794 |
13.1 |
|
1797 |
10.2 |
|
1798 |
11.7 |
|
1799 |
14.7 |
|
1800 |
11 |
|
1801 |
7.1 |
|
1802 |
13.3 |
|
1803 |
14.7 |
|
1809 |
9.9 |
|
1810 |
9.9 |
|
1811 |
10.5 |
|
1812 |
7.6 |
S1812L |
1813 |
5.2 |
|
1814 |
6.7 |
|
1815 |
4.1 |
|
1817 |
6.5 |
|
1818 |
6.4 |
|
1819 |
5.9 |
D1819N |
1820 |
7 |
A1820T |
1821 |
9.5 |
|
1822 |
13.3 |
|
1825 |
13.8 |
L1825P |
1826 |
11.6 |
R1826C R1826H |
1827 |
9.9 |
|
1828 |
9.9 |
A1828T |
1829 |
7.1 |
|
1830 |
11.3 |
|
1831 |
8.8 |
|
1832 |
11 |
Q1832E |
1834 |
13.7 |
|
1835 |
11.1 |
|
1840 |
14.8 |
|
1848 |
13.2 |
|
1853 |
13 |
|
1857 |
13 |
|