A1288P Summary
SCN5A A1288P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1288P is not present in gnomAD. A1288P has been functionally characterized in 0 papers. Other variants at the same resdue are A1288D .A1288G .A1288P .A1288S .A1288T .A1288V .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1288P 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 |
0.943 |
A1288P has 29 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 |
1240 |
11.6 |
E1240Q |
1243 |
10.9 |
D1243N |
1244 |
11.7 |
|
1247 |
12.2 |
T1247I |
1248 |
13.6 |
|
1279 |
14.2 |
V1279I |
1280 |
13.2 |
|
1281 |
11 |
V1281F |
1282 |
10.2 |
|
1283 |
9.4 |
|
1284 |
6.4 |
|
1285 |
5.1 |
|
1286 |
6.2 |
|
1287 |
4.2 |
|
1289 |
4 |
|
1290 |
5.2 |
|
1291 |
4.8 |
|
1292 |
7.3 |
|
1293 |
12 |
F1293S |
1294 |
11.8 |
A1294G |
1295 |
9.1 |
E1295K |
1296 |
12.2 |
|
1297 |
8.1 |
|
1298 |
9.2 |
P1298L |
1299 |
7 |
|
1300 |
12.2 |
|
1301 |
13.5 |
|
1302 |
11.3 |
|
1303 |
12.3 |
R1303Q |