D356V Summary
SCN5A D356V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D356V is not present in gnomAD. D356V has been functionally characterized in 0 papers. Other variants at the same resdue are D356A .D356E .D356E .D356G .D356H .D356N .D356V .D356Y .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D356V 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 |
0.987 |
D356V has 54 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 |
| 265 |
10.7 |
|
| 266 |
11.3 |
|
| 267 |
13 |
|
| 268 |
9.2 |
|
| 269 |
6.5 |
|
| 270 |
9.9 |
Q270K |
| 271 |
11.7 |
|
| 272 |
9.5 |
|
| 273 |
5.8 |
|
| 274 |
6.7 |
|
| 275 |
9.6 |
|
| 276 |
8.9 |
L276Q |
| 277 |
7.5 |
|
| 278 |
12.6 |
|
| 279 |
14.5 |
|
| 343 |
10.6 |
|
| 344 |
12.2 |
|
| 345 |
11.6 |
|
| 346 |
11 |
E346K |
| 347 |
9 |
|
| 348 |
11.8 |
|
| 349 |
14.6 |
D349N |
| 350 |
14.9 |
|
| 351 |
9.7 |
G351S G351V |
| 352 |
10.1 |
|
| 353 |
9.1 |
T353I |
| 354 |
5.2 |
|
| 355 |
6.6 |
F355I |
| 357 |
4 |
|
| 358 |
8.7 |
|
| 359 |
8.1 |
|
| 360 |
7.3 |
|
| 361 |
7.4 |
|
| 362 |
12.2 |
|
| 363 |
11.6 |
|
| 364 |
11.1 |
|
| 365 |
13.2 |
|
| 377 |
14 |
|
| 380 |
14.7 |
|
| 381 |
13.8 |
|
| 384 |
14.6 |
|
| 904 |
14.5 |
|
| 912 |
14.6 |
Q912R |
| 1545 |
13.4 |
|
| 1546 |
11.7 |
|
| 1547 |
11.1 |
|
| 1548 |
9.3 |
E1548K G1548K |
| 1549 |
6.1 |
|
| 1550 |
5.7 |
|
| 1551 |
9.4 |
D1551N |
| 1552 |
10.2 |
|
| 1553 |
14.1 |
|
| 1556 |
14.8 |
|
| 1623 |
14.8 |
R1623L R1623Q |