A1313P Summary
SCN5A A1313P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1313P is not present in gnomAD. A1313P has been functionally characterized in 0 papers. Other variants at the same resdue are A1313D .A1313G .A1313P .A1313S .A1313T .A1313V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1313P 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 |
0.969 |
A1313P has 52 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 |
| 1207 |
13.4 |
|
| 1208 |
10 |
E1208K |
| 1209 |
9.5 |
|
| 1210 |
13.2 |
F1210S |
| 1211 |
9.9 |
|
| 1212 |
6.1 |
p.I1212del |
| 1213 |
11.7 |
|
| 1214 |
12.6 |
|
| 1215 |
8.7 |
I1215V |
| 1216 |
8.8 |
|
| 1217 |
14 |
|
| 1218 |
13.9 |
S1218I |
| 1219 |
12.6 |
|
| 1253 |
14.3 |
|
| 1257 |
14.9 |
|
| 1269 |
14.4 |
N1269S |
| 1270 |
13.8 |
|
| 1271 |
9.2 |
|
| 1272 |
13 |
|
| 1274 |
12.3 |
|
| 1275 |
12.1 |
D1275N |
| 1278 |
14.9 |
I1278N |
| 1306 |
14.7 |
R1306H |
| 1307 |
11.4 |
|
| 1308 |
11 |
L1308F |
| 1309 |
8.5 |
R1309H |
| 1310 |
5.7 |
|
| 1311 |
6.6 |
|
| 1312 |
5 |
|
| 1314 |
4.5 |
|
| 1315 |
5.3 |
|
| 1316 |
5.6 |
R1316Q |
| 1317 |
7.5 |
F1317C |
| 1318 |
11.6 |
|
| 1319 |
11.3 |
G1319V |
| 1320 |
8.9 |
M1320I M1320I M1320I |
| 1321 |
9.9 |
|
| 1322 |
14.1 |
|
| 1323 |
12.7 |
|
| 1324 |
10.9 |
|
| 1325 |
13.8 |
N1325S |
| 1327 |
14.9 |
|
| 1659 |
11.7 |
|
| 1660 |
14.4 |
I1660V |
| 1661 |
14 |
G1661R G1661R |
| 1662 |
10.4 |
|
| 1663 |
11.4 |
|
| 1665 |
13.2 |
|
| 1666 |
10.1 |
|
| 1667 |
13.9 |
V1667I |
| 1669 |
13.4 |
|
| 1670 |
13.6 |
|