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 |
|