A936D Summary
SCN5A A936D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A936D is not present in gnomAD. A936D has been functionally characterized in 0 papers. Other variants at the same resdue are A936D .A936G .A936P .A936S .A936T .A936V .
This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
A936D 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 |
0.96 |
A936D has 78 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 |
| 238 |
11.4 |
|
| 239 |
10.4 |
I239V I239V |
| 240 |
14.4 |
V240M |
| 241 |
13.4 |
|
| 242 |
10.3 |
|
| 243 |
11.8 |
|
| 245 |
14.2 |
Q245K |
| 246 |
11.3 |
|
| 249 |
14.8 |
|
| 405 |
14.1 |
|
| 406 |
12.7 |
N406K N406K N406S |
| 407 |
14.3 |
|
| 408 |
12.2 |
|
| 409 |
7.8 |
L409V |
| 410 |
9.5 |
|
| 411 |
10.7 |
V411M |
| 412 |
7 |
|
| 413 |
5.4 |
A413T |
| 414 |
10.2 |
|
| 415 |
9 |
|
| 416 |
5.4 |
Y416C |
| 417 |
7.9 |
|
| 418 |
12.1 |
|
| 419 |
11.8 |
|
| 420 |
9.7 |
|
| 421 |
13 |
|
| 831 |
13.8 |
|
| 832 |
14.5 |
|
| 835 |
12.1 |
S835A |
| 837 |
14.1 |
|
| 838 |
10.8 |
|
| 839 |
10.9 |
L839P |
| 840 |
13.8 |
|
| 841 |
13.6 |
N841K N841K |
| 842 |
9.8 |
|
| 843 |
13.4 |
|
| 845 |
14.5 |
|
| 846 |
14.2 |
|
| 926 |
13.8 |
|
| 927 |
13.2 |
N927S |
| 928 |
13 |
|
| 929 |
10.6 |
|
| 930 |
9.8 |
|
| 931 |
9.8 |
|
| 932 |
7.4 |
|
| 933 |
5.2 |
|
| 934 |
6.5 |
|
| 935 |
4.7 |
|
| 937 |
4.6 |
|
| 938 |
5.7 |
|
| 939 |
4.7 |
|
| 940 |
6.2 |
|
| 941 |
8.2 |
S941N |
| 942 |
9.6 |
|
| 943 |
11.1 |
|
| 944 |
14.4 |
|
| 1459 |
12.7 |
|
| 1460 |
11.8 |
|
| 1461 |
14.3 |
T1461S T1461S |
| 1462 |
14.2 |
|
| 1463 |
9.8 |
|
| 1464 |
11.1 |
|
| 1465 |
14.6 |
|
| 1466 |
10 |
|
| 1467 |
9.1 |
|
| 1468 |
12.7 |
|
| 1469 |
13.7 |
|
| 1470 |
10.2 |
|
| 1471 |
11.7 |
|
| 1474 |
14.9 |
|
| 1765 |
14.2 |
|
| 1768 |
12.5 |
I1768V |
| 1769 |
13 |
|
| 1771 |
14.7 |
|
| 1772 |
10.4 |
|
| 1773 |
13.2 |
|
| 1775 |
13.7 |
|
| 1776 |
13.1 |
|