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 |
|