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 |
|