A1270T Summary

SCN5A A1270T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1270T is not present in gnomAD. A1270T 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.

A1270T 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 0.78

A1270T 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