A385V Summary
SCN5A A385V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A385V is not present in gnomAD. A385V has been functionally characterized in 0 papers. Other variants at the same resdue are A385E .A385G .A385P .A385S .A385T .A385V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A385V 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 |
0.817 |
A385V has 58 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 |
| 267 |
14.3 |
|
| 268 |
12 |
|
| 269 |
14.6 |
|
| 270 |
14.1 |
Q270K |
| 271 |
9.3 |
|
| 272 |
7.5 |
|
| 273 |
12.7 |
|
| 274 |
10.1 |
|
| 275 |
6.6 |
|
| 276 |
8.5 |
L276Q |
| 277 |
12.7 |
|
| 278 |
8.1 |
|
| 279 |
13.3 |
|
| 280 |
13.6 |
|
| 324 |
13.5 |
|
| 325 |
9 |
|
| 326 |
9.5 |
|
| 327 |
7 |
|
| 328 |
7.4 |
|
| 329 |
5.9 |
|
| 330 |
8.8 |
|
| 331 |
9.8 |
|
| 332 |
6.1 |
A332T |
| 333 |
8.9 |
|
| 334 |
10.5 |
|
| 335 |
13.2 |
C335R |
| 341 |
10.8 |
C341Y |
| 342 |
13.9 |
|
| 343 |
13 |
|
| 348 |
14.2 |
|
| 353 |
14.6 |
T353I |
| 354 |
13.4 |
|
| 355 |
12 |
F355I |
| 377 |
12.1 |
|
| 378 |
10.5 |
|
| 379 |
11.5 |
|
| 380 |
10 |
|
| 381 |
5.8 |
|
| 382 |
5.8 |
|
| 383 |
8.4 |
|
| 384 |
3.8 |
|
| 386 |
3.5 |
G386E G386R G386R |
| 387 |
8.4 |
|
| 388 |
7.3 |
|
| 389 |
5.6 |
|
| 390 |
11 |
|
| 391 |
12.1 |
|
| 392 |
11.2 |
|
| 393 |
11.3 |
|
| 1619 |
14.7 |
|
| 1620 |
11.9 |
T1620K T1620M |
| 1621 |
15 |
|
| 1689 |
14.2 |
|
| 1691 |
10.9 |
|
| 1692 |
12.6 |
|
| 1698 |
14.4 |
A1698T |
| 1699 |
14 |
|
| 1702 |
12.5 |
|