A344P Summary
SCN5A A344P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A344P is not present in gnomAD. A344P has been functionally characterized in 0 papers. Other variants at the same resdue are A344E .A344G .A344P .A344S .A344T .A344V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A344P 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 |
0.778 |
A344P has 43 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 |
273 |
12.9 |
|
274 |
8.5 |
|
275 |
10.5 |
|
276 |
10.1 |
L276Q |
277 |
5.2 |
|
278 |
7.3 |
|
279 |
5.1 |
|
280 |
9.7 |
|
281 |
8.3 |
V281M |
282 |
14.1 |
R282C R282H |
283 |
13.7 |
|
317 |
8.4 |
|
318 |
12.7 |
|
319 |
10.9 |
G319S |
320 |
7.8 |
T320N |
321 |
9 |
|
322 |
11.1 |
|
323 |
9.6 |
|
324 |
12.7 |
|
325 |
10.4 |
|
326 |
12.1 |
|
327 |
12.4 |
|
328 |
14.5 |
|
339 |
14.3 |
|
340 |
11.5 |
R340Q R340W |
341 |
9.1 |
C341Y |
342 |
5.9 |
|
343 |
4.9 |
|
345 |
3.3 |
|
346 |
7 |
E346K |
347 |
8.6 |
|
348 |
10.5 |
|
349 |
14.3 |
D349N |
351 |
11.7 |
G351S G351V |
352 |
15 |
|
353 |
13.3 |
T353I |
354 |
12 |
|
356 |
12.2 |
D356N |
380 |
14.2 |
|
384 |
12.3 |
|
1549 |
14.9 |
|
1550 |
10.2 |
|
1551 |
11.4 |
D1551N |