A1242T Summary
SCN5A A1242T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1242T is not present in gnomAD. A1242T has been functionally characterized in 0 papers. Other variants at the same resdue are A1242D .A1242G .A1242P .A1242S .A1242T .A1242V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1242T 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 |
0.81 |
A1242T has 53 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 |
| 1210 |
14.9 |
F1210S |
| 1211 |
14.7 |
|
| 1213 |
13.6 |
|
| 1214 |
10.4 |
|
| 1215 |
11.8 |
I1215V |
| 1216 |
13.6 |
|
| 1217 |
9.6 |
|
| 1218 |
7.4 |
S1218I |
| 1219 |
10.7 |
|
| 1220 |
11.1 |
|
| 1221 |
8.7 |
A1221V |
| 1222 |
9.2 |
|
| 1223 |
13.2 |
|
| 1224 |
13.4 |
|
| 1225 |
11 |
E1225K |
| 1229 |
13.4 |
|
| 1234 |
12.5 |
|
| 1235 |
10.4 |
|
| 1236 |
11.5 |
K1236R |
| 1237 |
9 |
|
| 1238 |
6.9 |
|
| 1239 |
5.7 |
L1239P |
| 1240 |
6.2 |
E1240Q |
| 1241 |
4.6 |
|
| 1243 |
4.5 |
D1243N |
| 1244 |
6.5 |
|
| 1245 |
4.7 |
M1245I M1245I M1245I |
| 1246 |
5 |
|
| 1247 |
7.9 |
T1247I |
| 1248 |
9.3 |
|
| 1249 |
9.7 |
|
| 1250 |
10.3 |
|
| 1251 |
13.7 |
V1251M |
| 1252 |
15 |
|
| 1253 |
14.6 |
|
| 1278 |
13.7 |
I1278N |
| 1279 |
13.9 |
V1279I |
| 1281 |
13.6 |
V1281F |
| 1282 |
10.6 |
|
| 1283 |
13.8 |
|
| 1284 |
14.8 |
|
| 1285 |
11.1 |
|
| 1286 |
11.9 |
|
| 1289 |
13 |
|
| 1299 |
14.7 |
|
| 1301 |
13.8 |
|
| 1302 |
14.2 |
|
| 1303 |
8.4 |
R1303Q |
| 1304 |
13.2 |
T1304M |
| 1305 |
14.6 |
|
| 1306 |
8.8 |
R1306H |
| 1307 |
13.9 |
|
| 1309 |
14 |
R1309H |