D1243A Summary
SCN5A D1243A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1243A is not present in gnomAD. D1243A has been functionally characterized in 0 papers. Other variants at the same resdue are D1243A .D1243E .D1243E .D1243G .D1243H .D1243N .D1243V .D1243Y .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D1243A 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 |
0.98 |
D1243A has 54 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 |
| 1214 |
13 |
|
| 1215 |
13.2 |
I1215V |
| 1217 |
13 |
|
| 1218 |
9.7 |
S1218I |
| 1219 |
12.4 |
|
| 1220 |
13.5 |
|
| 1221 |
11.2 |
A1221V |
| 1222 |
9.9 |
|
| 1223 |
14.6 |
|
| 1225 |
11.1 |
E1225K |
| 1226 |
14.8 |
|
| 1229 |
13.7 |
|
| 1235 |
12.4 |
|
| 1236 |
11.6 |
K1236R |
| 1237 |
10.6 |
|
| 1238 |
10.1 |
|
| 1239 |
7.3 |
L1239P |
| 1240 |
5.2 |
E1240Q |
| 1241 |
7.7 |
|
| 1242 |
4.5 |
|
| 1244 |
5.8 |
|
| 1245 |
7.3 |
M1245I M1245I M1245I |
| 1246 |
6.9 |
|
| 1247 |
5.9 |
T1247I |
| 1248 |
8.6 |
|
| 1249 |
10.4 |
|
| 1250 |
9.5 |
|
| 1251 |
12.4 |
V1251M |
| 1253 |
14.7 |
|
| 1278 |
11.4 |
I1278N |
| 1279 |
11.2 |
V1279I |
| 1280 |
13.2 |
|
| 1281 |
9.8 |
V1281F |
| 1282 |
6.9 |
|
| 1283 |
10.1 |
|
| 1284 |
10.4 |
|
| 1285 |
6.6 |
|
| 1286 |
8.2 |
|
| 1287 |
11.8 |
|
| 1288 |
10.9 |
|
| 1289 |
9.5 |
|
| 1290 |
14.2 |
|
| 1298 |
14.7 |
P1298L |
| 1299 |
10.6 |
|
| 1300 |
13.9 |
|
| 1301 |
10.9 |
|
| 1302 |
10.4 |
|
| 1303 |
5.7 |
R1303Q |
| 1304 |
11.2 |
T1304M |
| 1305 |
12.2 |
|
| 1306 |
7.4 |
R1306H |
| 1307 |
13.4 |
|
| 1309 |
13.8 |
R1309H |
| 1673 |
14.9 |
|