A410D Summary
SCN5A A410D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A410D is not present in gnomAD. A410D has been functionally characterized in 0 papers. Other variants at the same resdue are A410D .A410G .A410P .A410S .A410T .A410V .A410W .
This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.
A410D 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 |
0.974 |
A410D has 83 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 |
| 242 |
12.7 |
|
| 243 |
13.9 |
|
| 245 |
12.8 |
Q245K |
| 246 |
9.4 |
|
| 247 |
12.5 |
V247L V247L |
| 248 |
14.8 |
|
| 249 |
9.8 |
|
| 250 |
9.3 |
|
| 251 |
13.5 |
|
| 252 |
13.3 |
|
| 253 |
10.1 |
|
| 254 |
13.1 |
|
| 256 |
13.8 |
|
| 257 |
14.1 |
|
| 400 |
14.5 |
G400E G400R G400R |
| 401 |
13.7 |
|
| 402 |
14 |
F402L F402L F402L |
| 403 |
11.7 |
|
| 404 |
10.1 |
|
| 405 |
9.1 |
|
| 406 |
6.9 |
N406K N406K N406S |
| 407 |
5.5 |
|
| 408 |
6.1 |
|
| 409 |
4.3 |
L409V |
| 411 |
4 |
V411M |
| 412 |
5.6 |
|
| 413 |
5.2 |
A413T |
| 414 |
5.9 |
|
| 415 |
8.5 |
|
| 416 |
11.1 |
Y416C |
| 417 |
11.1 |
|
| 418 |
11.9 |
|
| 419 |
15 |
|
| 924 |
14.4 |
V924I |
| 927 |
13.8 |
N927S |
| 928 |
10.9 |
|
| 929 |
10.9 |
|
| 930 |
13.5 |
|
| 931 |
13.5 |
|
| 932 |
8.5 |
|
| 933 |
10.7 |
|
| 934 |
14.3 |
|
| 935 |
10.1 |
|
| 936 |
9.5 |
|
| 937 |
14.1 |
|
| 938 |
14.3 |
|
| 939 |
11.1 |
|
| 940 |
14 |
|
| 1463 |
14.9 |
|
| 1466 |
12.3 |
|
| 1467 |
13.4 |
|
| 1469 |
14.8 |
|
| 1470 |
11 |
|
| 1471 |
14.5 |
|
| 1473 |
14.7 |
F1473C |
| 1474 |
14.4 |
|
| 1642 |
12.7 |
|
| 1643 |
13 |
|
| 1645 |
12.7 |
T1645M |
| 1646 |
9.3 |
|
| 1647 |
13 |
|
| 1648 |
14.5 |
|
| 1649 |
10.7 |
|
| 1650 |
10.8 |
|
| 1652 |
13.8 |
|
| 1653 |
12.9 |
|
| 1657 |
14.8 |
|
| 1765 |
13.9 |
|
| 1767 |
13.1 |
Y1767C |
| 1768 |
9.3 |
I1768V |
| 1769 |
9.9 |
|
| 1770 |
11.5 |
|
| 1771 |
7.6 |
|
| 1772 |
5.2 |
|
| 1773 |
9.4 |
|
| 1774 |
10.2 |
|
| 1775 |
5.2 |
|
| 1776 |
7.8 |
|
| 1777 |
11.4 |
V1777M |
| 1778 |
11 |
|
| 1779 |
9.4 |
T1779M |
| 1780 |
12.2 |
|
| 1782 |
14.5 |
|