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 |
|