A1746D Summary
SCN5A A1746D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1746D is not present in gnomAD. A1746D has been functionally characterized in 0 papers. Other variants at the same resdue are A1746D .A1746G .A1746P .A1746S .A1746T .A1746V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
A1746D 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 |
0.789 |
A1746D has 37 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 |
1399 |
14.8 |
|
1404 |
14.8 |
|
1406 |
12 |
G1406E G1406R G1406R |
1407 |
12.8 |
|
1409 |
13.9 |
|
1410 |
11.4 |
|
1671 |
14.5 |
|
1674 |
12.5 |
F1674V |
1675 |
12.7 |
|
1677 |
13.9 |
|
1678 |
10.1 |
N1678S |
1679 |
11 |
|
1682 |
13.9 |
|
1716 |
14.8 |
|
1717 |
10.8 |
|
1718 |
12.8 |
|
1719 |
13.3 |
|
1720 |
9.2 |
|
1721 |
7.8 |
|
1722 |
8.6 |
N1722D |
1723 |
11.7 |
T1723N |
1724 |
12.6 |
|
1725 |
14.5 |
P1725L |
1728 |
14.2 |
|
1742 |
12.7 |
|
1743 |
9.7 |
G1743E G1743R G1743R |
1744 |
6.4 |
S1744I |
1745 |
3.9 |
|
1747 |
3.9 |
V1747M |
1748 |
5.2 |
|
1749 |
4.8 |
|
1750 |
5.5 |
|
1751 |
9.4 |
|
1752 |
10.4 |
|
1753 |
10 |
|
1754 |
11.6 |
|
1756 |
14.7 |
|