A364G Summary
SCN5A A364G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A364G is not present in gnomAD. A364G has been functionally characterized in 0 papers. Other variants at the same resdue are A364E .A364G .A364P .A364S .A364T .A364V .
This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
A364G 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 |
0.632 |
A364G has 77 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 |
| 257 |
14.1 |
|
| 258 |
13.7 |
|
| 260 |
13.7 |
|
| 261 |
9.4 |
|
| 262 |
12.1 |
|
| 263 |
13.2 |
V263I |
| 264 |
10.7 |
|
| 265 |
8.2 |
|
| 266 |
12.4 |
|
| 267 |
12 |
|
| 268 |
9.3 |
|
| 269 |
11 |
|
| 270 |
14.6 |
Q270K |
| 271 |
13.4 |
|
| 272 |
10.8 |
|
| 273 |
14.1 |
|
| 274 |
13.9 |
|
| 275 |
14.3 |
|
| 276 |
10.9 |
L276Q |
| 277 |
14.6 |
|
| 347 |
12.2 |
|
| 348 |
12 |
|
| 349 |
12.2 |
D349N |
| 350 |
13 |
|
| 351 |
11.5 |
G351S G351V |
| 352 |
10.5 |
|
| 353 |
7.1 |
T353I |
| 354 |
7.7 |
|
| 355 |
6.4 |
F355I |
| 356 |
11.1 |
D356N |
| 357 |
10.6 |
|
| 358 |
10.2 |
|
| 359 |
8.8 |
|
| 360 |
7.9 |
|
| 361 |
5.2 |
|
| 362 |
6.8 |
|
| 363 |
4.1 |
|
| 365 |
4.5 |
|
| 366 |
6.8 |
|
| 367 |
4.7 |
R367C R367H |
| 368 |
6.2 |
|
| 369 |
9.5 |
M369K |
| 370 |
9.6 |
T370M |
| 371 |
11.4 |
Q371E |
| 372 |
9.2 |
|
| 373 |
10.5 |
|
| 374 |
10.5 |
|
| 375 |
13.4 |
|
| 376 |
11.7 |
R376H |
| 377 |
7.1 |
|
| 378 |
12.8 |
|
| 379 |
14.6 |
|
| 380 |
11.9 |
|
| 381 |
11.5 |
|
| 392 |
10.9 |
|
| 393 |
10.6 |
|
| 395 |
14.4 |
|
| 396 |
10 |
|
| 397 |
11.9 |
I397V |
| 400 |
13.5 |
G400E G400R G400R |
| 401 |
12.9 |
|
| 897 |
14.4 |
|
| 898 |
14.7 |
|
| 899 |
9.7 |
|
| 900 |
8.9 |
|
| 901 |
13.9 |
E901K |
| 902 |
14.7 |
|
| 903 |
10.8 |
|
| 904 |
9.8 |
|
| 907 |
13.1 |
|
| 912 |
14.3 |
Q912R |
| 916 |
11.6 |
|
| 917 |
14.9 |
|
| 919 |
14.6 |
|
| 920 |
12.1 |
|
| 923 |
14 |
|
| 1546 |
14.8 |
|