A1307P Summary
SCN5A A1307P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1307P is not present in gnomAD. A1307P has been functionally characterized in 0 papers. Other variants at the same resdue are A1307E .A1307G .A1307P .A1307S .A1307T .A1307V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1307P 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 |
0.898 |
A1307P has 64 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 |
| 1211 |
13.7 |
|
| 1212 |
12.2 |
p.I1212del |
| 1213 |
14.2 |
|
| 1214 |
13 |
|
| 1215 |
8 |
I1215V |
| 1216 |
9.1 |
|
| 1217 |
12 |
|
| 1218 |
8.5 |
S1218I |
| 1219 |
6.5 |
|
| 1220 |
9.8 |
|
| 1221 |
10.9 |
A1221V |
| 1222 |
7.9 |
|
| 1223 |
10.4 |
|
| 1224 |
13.8 |
|
| 1225 |
12.7 |
E1225K |
| 1226 |
13.9 |
|
| 1239 |
14.1 |
L1239P |
| 1242 |
13.9 |
|
| 1243 |
13.4 |
D1243N |
| 1246 |
12.4 |
|
| 1247 |
14.5 |
T1247I |
| 1250 |
12.1 |
|
| 1271 |
12.4 |
|
| 1274 |
9.6 |
|
| 1275 |
10.8 |
D1275N |
| 1277 |
12.4 |
|
| 1278 |
8.9 |
I1278N |
| 1279 |
13.5 |
V1279I |
| 1281 |
12.1 |
V1281F |
| 1282 |
12.9 |
|
| 1301 |
10.6 |
|
| 1302 |
11.4 |
|
| 1303 |
9.5 |
R1303Q |
| 1304 |
5.9 |
T1304M |
| 1305 |
6.1 |
|
| 1306 |
6.6 |
R1306H |
| 1308 |
4 |
L1308F |
| 1309 |
7.1 |
R1309H |
| 1310 |
5.7 |
|
| 1311 |
7.7 |
|
| 1312 |
12.8 |
|
| 1313 |
11.4 |
|
| 1314 |
11.9 |
|
| 1315 |
14 |
|
| 1662 |
14.5 |
|
| 1663 |
13.1 |
|
| 1665 |
11.8 |
|
| 1666 |
8.1 |
|
| 1667 |
10.3 |
V1667I |
| 1668 |
12.5 |
|
| 1669 |
6.8 |
|
| 1670 |
5.8 |
|
| 1671 |
10.1 |
|
| 1672 |
10.1 |
S1672Y |
| 1673 |
7.3 |
|
| 1674 |
9.6 |
F1674V |
| 1675 |
12.3 |
|
| 1676 |
12.6 |
M1676I M1676I M1676I |
| 1677 |
12.9 |
|
| 1678 |
14.7 |
N1678S |
| 1697 |
14.3 |
|
| 1700 |
15 |
|
| 1701 |
14.7 |
M1701I M1701I M1701I |
| 1751 |
15 |
|