A1680P Summary
SCN5A A1680P was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1680P is present in 1 out of 251494 alleles in gnomAD (minor allele frequency of 0.000398%). A1680P has been functionally characterized in 0 papers. Other variants at the same resdue are A1680D .A1680G .A1680P .A1680S .A1680T .A1680V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1680P 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 |
0.081 |
-3.58 |
probablydamaging |
0.984 |
0.5955 |
-1.98 |
-2 |
0.826 |
A1680P has 59 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 |
| 1223 |
14.5 |
|
| 1225 |
11.9 |
E1225K |
| 1226 |
8.1 |
|
| 1227 |
7 |
|
| 1228 |
11.8 |
Y1228C Y1228H |
| 1229 |
12.6 |
|
| 1230 |
13.9 |
E1230K |
| 1300 |
12.5 |
|
| 1301 |
12.5 |
|
| 1304 |
14.9 |
T1304M |
| 1672 |
11.5 |
S1672Y |
| 1673 |
11.9 |
|
| 1674 |
11.7 |
F1674V |
| 1675 |
8 |
|
| 1676 |
7 |
M1676I M1676I M1676I |
| 1677 |
6.7 |
|
| 1678 |
7.3 |
N1678S |
| 1679 |
5.6 |
|
| 1681 |
4.5 |
Y1681F |
| 1682 |
5.2 |
|
| 1683 |
9.4 |
|
| 1684 |
12.2 |
|
| 1685 |
13.7 |
|
| 1687 |
14.7 |
|
| 1688 |
11.3 |
|
| 1689 |
14.6 |
|
| 1690 |
12 |
D1690N |
| 1691 |
14.6 |
|
| 1692 |
14.1 |
|
| 1693 |
8.5 |
|
| 1694 |
6.8 |
|
| 1695 |
6 |
|
| 1696 |
9.9 |
|
| 1697 |
13.5 |
|
| 1698 |
13.8 |
A1698T |
| 1699 |
11.7 |
|
| 1700 |
11.2 |
|
| 1703 |
13.2 |
|
| 1716 |
13.7 |
|
| 1717 |
15 |
|
| 1719 |
11.8 |
|
| 1720 |
10.1 |
|
| 1721 |
13.7 |
|
| 1722 |
14.5 |
N1722D |
| 1731 |
13.6 |
|
| 1732 |
11.3 |
|
| 1734 |
14.1 |
|
| 1738 |
12.9 |
|
| 1739 |
10.7 |
R1739Q R1739W |
| 1740 |
6.9 |
G1740R G1740R |
| 1741 |
7.8 |
D1741N |
| 1742 |
9.2 |
|
| 1743 |
8.7 |
G1743E G1743R G1743R |
| 1744 |
9.7 |
S1744I |
| 1745 |
13.5 |
|
| 1747 |
11.7 |
V1747M |
| 1748 |
12.9 |
|
| 1751 |
13 |
|
| 1752 |
14.9 |
|