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 |