A1260T Summary

SCN5A A1260T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1260T is not present in gnomAD. A1260T 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.

A1260T 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 0.957

A1260T 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