A1270G Summary
SCN5A A1270G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1270G is not present in gnomAD. A1270G has been functionally characterized in 0 papers. Other variants at the same resdue are A1270D .A1270G .A1270P .A1270S .A1270T .A1270V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1270G 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 |
0.754 |
A1270G has 37 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 |
1254 |
13.6 |
|
1257 |
13 |
|
1258 |
14 |
|
1261 |
11.8 |
|
1262 |
13.5 |
G1262S |
1263 |
13.4 |
|
1264 |
14.2 |
|
1265 |
10.9 |
|
1266 |
8.6 |
|
1267 |
9.6 |
|
1268 |
7 |
|
1269 |
3.9 |
N1269S |
1271 |
4.7 |
|
1272 |
5.5 |
|
1273 |
6.1 |
|
1274 |
6.5 |
|
1275 |
8.7 |
D1275N |
1276 |
10 |
|
1277 |
9.7 |
|
1278 |
11.9 |
I1278N |
1279 |
14.3 |
V1279I |
1280 |
14.5 |
|
1305 |
13.6 |
|
1308 |
11.5 |
L1308F |
1309 |
11.8 |
R1309H |
1310 |
13.7 |
|
1311 |
11 |
|
1312 |
9.3 |
|
1313 |
13.8 |
|
1315 |
12 |
|
1316 |
14.4 |
R1316Q |
1324 |
12.7 |
|
1325 |
13.4 |
N1325S |
1327 |
14 |
|
1328 |
11 |
|
1329 |
14.4 |
G1329S |
1331 |
14.2 |
|