D1280G Summary
SCN5A D1280G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1280G is not present in gnomAD. D1280G has been functionally characterized in 0 papers. Other variants at the same resdue are D1280A .D1280E .D1280E .D1280G .D1280H .D1280N .D1280V .D1280Y .
This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
D1280G 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 |
0.607 |
D1280G has 41 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 |
1243 |
13.2 |
D1243N |
1246 |
14.6 |
|
1247 |
10 |
T1247I |
1248 |
13.2 |
|
1249 |
13.5 |
|
1250 |
9.8 |
|
1251 |
9.8 |
V1251M |
1252 |
14.3 |
|
1253 |
12.7 |
|
1254 |
9.4 |
|
1255 |
12.9 |
|
1257 |
14.3 |
|
1258 |
11.3 |
|
1266 |
12.4 |
|
1267 |
11.8 |
|
1270 |
14.5 |
|
1272 |
12.5 |
|
1273 |
9.3 |
|
1274 |
10.2 |
|
1275 |
9.3 |
D1275N |
1276 |
5.4 |
|
1277 |
5.6 |
|
1278 |
6.6 |
I1278N |
1279 |
4.1 |
V1279I |
1281 |
5.1 |
V1281F |
1282 |
6.3 |
|
1283 |
5.4 |
|
1284 |
7.1 |
|
1285 |
10 |
|
1286 |
10.5 |
|
1287 |
10.9 |
|
1288 |
13.2 |
|
1299 |
14 |
|
1301 |
14.4 |
|
1302 |
10.1 |
|
1303 |
12.9 |
R1303Q |
1304 |
13.6 |
T1304M |
1305 |
10.2 |
|
1306 |
11.1 |
R1306H |
1308 |
13.8 |
L1308F |
1309 |
12.9 |
R1309H |