D1275H Summary
SCN5A D1275H was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1275H is not present in gnomAD. D1275H has been functionally characterized in 0 papers. Other variants at the same resdue are D1275A .D1275E .D1275E .D1275G .D1275H .D1275N .D1275V .D1275Y .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D1275H 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 |
0.978 |
D1275H has 58 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 |
14.3 |
|
| 1208 |
13.3 |
E1208K |
| 1211 |
10.4 |
|
| 1212 |
12 |
p.I1212del |
| 1214 |
12.8 |
|
| 1215 |
10.1 |
I1215V |
| 1216 |
14.2 |
|
| 1218 |
13.9 |
S1218I |
| 1219 |
14.6 |
|
| 1246 |
12.6 |
|
| 1247 |
11.9 |
T1247I |
| 1249 |
11.2 |
|
| 1250 |
7.4 |
|
| 1251 |
10.6 |
V1251M |
| 1252 |
12.2 |
|
| 1253 |
7.7 |
|
| 1254 |
6.9 |
|
| 1255 |
12.3 |
|
| 1256 |
12.4 |
|
| 1257 |
8.4 |
|
| 1258 |
10 |
|
| 1260 |
14.6 |
|
| 1261 |
12 |
|
| 1262 |
13.6 |
G1262S |
| 1263 |
14 |
|
| 1265 |
14.7 |
|
| 1266 |
7.8 |
|
| 1267 |
10.4 |
|
| 1268 |
12.6 |
|
| 1269 |
9.5 |
N1269S |
| 1270 |
8.7 |
|
| 1271 |
8 |
|
| 1272 |
5.5 |
|
| 1273 |
7.8 |
|
| 1274 |
4.5 |
|
| 1276 |
6.6 |
|
| 1277 |
6.8 |
|
| 1278 |
5.2 |
I1278N |
| 1279 |
7 |
V1279I |
| 1280 |
9.3 |
|
| 1281 |
10.4 |
V1281F |
| 1282 |
10.6 |
|
| 1283 |
12.5 |
|
| 1284 |
15 |
|
| 1302 |
14.1 |
|
| 1303 |
14.4 |
R1303Q |
| 1304 |
13.2 |
T1304M |
| 1305 |
9.4 |
|
| 1306 |
9.3 |
R1306H |
| 1307 |
10.8 |
|
| 1308 |
8.9 |
L1308F |
| 1309 |
5.3 |
R1309H |
| 1310 |
10.3 |
|
| 1311 |
10.7 |
|
| 1312 |
9.9 |
|
| 1313 |
12.1 |
|
| 1315 |
13.9 |
|
| 1316 |
14.2 |
R1316Q |