A1881G Summary
SCN5A A1881G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1881G is not present in gnomAD. A1881G has been functionally characterized in 0 papers. Other variants at the same resdue are A1881E .A1881G .A1881P .A1881S .A1881T .A1881V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1881G 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 |
0.766 |
A1881G has 19 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 |
| 1839 |
12.3 |
|
| 1855 |
14.1 |
|
| 1859 |
14.8 |
|
| 1872 |
14.8 |
|
| 1873 |
10.2 |
|
| 1874 |
11.8 |
|
| 1875 |
10.2 |
p.M1875dup |
| 1876 |
9.6 |
|
| 1877 |
7.7 |
|
| 1878 |
6.7 |
|
| 1879 |
7 |
|
| 1880 |
5.3 |
M1880V |
| 1882 |
3.6 |
|
| 1883 |
5.8 |
|
| 1884 |
4.8 |
P1884L |
| 1885 |
6.3 |
|
| 1886 |
9.1 |
|
| 1887 |
9.4 |
|
| 1888 |
13.2 |
|