A1260G Summary
SCN5A A1260G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1260G is not present in gnomAD. A1260G has been functionally characterized in 0 papers. Other variants at the same resdue are A1260D .A1260G .A1260P .A1260S .A1260T .A1260V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1260G 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 |
0.882 |
A1260G has 23 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 |
11.6 |
|
| 1208 |
12.6 |
E1208K |
| 1211 |
14.8 |
|
| 1251 |
14.5 |
V1251M |
| 1252 |
12.2 |
|
| 1253 |
11.4 |
|
| 1254 |
10.6 |
|
| 1255 |
9.5 |
|
| 1256 |
6.7 |
|
| 1257 |
6.4 |
|
| 1258 |
8.6 |
|
| 1259 |
4.1 |
|
| 1261 |
5.8 |
|
| 1262 |
5.8 |
G1262S |
| 1263 |
10.4 |
|
| 1264 |
10.7 |
|
| 1265 |
10.8 |
|
| 1266 |
9.4 |
|
| 1267 |
12.1 |
|
| 1268 |
14.5 |
|
| 1269 |
13.7 |
N1269S |
| 1272 |
12 |
|
| 1275 |
14.6 |
D1275N |