D372A Summary
SCN5A D372A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D372A is not present in gnomAD. D372A has been functionally characterized in 0 papers. Other variants at the same resdue are D372A .D372E .D372E .D372G .D372H .D372N .D372V .D372Y .
This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
D372A 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 |
0.962 |
D372A has 71 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 |
| 261 |
14.7 |
|
| 349 |
13.1 |
D349N |
| 350 |
14.1 |
|
| 353 |
12.3 |
T353I |
| 355 |
14.9 |
F355I |
| 361 |
14.3 |
|
| 362 |
13.8 |
|
| 363 |
10.1 |
|
| 364 |
9.2 |
|
| 365 |
10.9 |
|
| 366 |
8.6 |
|
| 367 |
4.5 |
R367C R367H |
| 368 |
7.8 |
|
| 369 |
10 |
M369K |
| 370 |
5.6 |
T370M |
| 371 |
6.5 |
Q371E |
| 373 |
3.8 |
|
| 374 |
7.5 |
|
| 375 |
9.2 |
|
| 376 |
9.8 |
R376H |
| 377 |
9.1 |
|
| 378 |
12.9 |
|
| 379 |
13.7 |
|
| 380 |
13.7 |
|
| 393 |
13 |
|
| 396 |
13 |
|
| 397 |
11.4 |
I397V |
| 400 |
14.3 |
G400E G400R G400R |
| 401 |
11.4 |
|
| 402 |
14.1 |
F402L F402L F402L |
| 405 |
13 |
|
| 890 |
14.1 |
I890T |
| 891 |
14.4 |
|
| 892 |
14.7 |
F892I |
| 893 |
9.4 |
R893C R893H |
| 894 |
9.5 |
|
| 895 |
12.4 |
|
| 896 |
10.6 |
|
| 897 |
6.1 |
|
| 898 |
6 |
|
| 899 |
5.2 |
|
| 900 |
5.8 |
|
| 901 |
9.1 |
E901K |
| 902 |
10.5 |
|
| 903 |
10 |
|
| 904 |
10.6 |
|
| 905 |
14 |
|
| 907 |
14.7 |
|
| 916 |
13.6 |
|
| 919 |
11.9 |
|
| 920 |
11.6 |
|
| 922 |
13 |
|
| 923 |
9.3 |
|
| 924 |
14 |
V924I |
| 926 |
14.7 |
|
| 927 |
11.7 |
N927S |
| 928 |
13.1 |
|
| 1417 |
13.2 |
|
| 1418 |
10.9 |
|
| 1419 |
9.8 |
|
| 1420 |
13.2 |
G1420R G1420V |
| 1421 |
12.4 |
|
| 1422 |
12.9 |
|
| 1706 |
12.3 |
|
| 1708 |
14.8 |
|
| 1709 |
10.6 |
T1709M |
| 1710 |
10.7 |
S1710L |
| 1711 |
9.6 |
|
| 1712 |
11.8 |
G1712S |
| 1713 |
14.1 |
|
| 1760 |
14.9 |
|