A1326T Summary

SCN5A A1326T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1326T is not present in gnomAD. A1326T has been functionally characterized in 0 papers. Other variants at the same resdue are A1326D .A1326G .A1326P .A1326S .A1326T .A1326V . This residue is located in a Mild_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

A1326T 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 0.942

A1326T has 61 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
1271 14.3
1311 14.2
1312 14.5
1314 13.5
1315 11.4
1317 14.7 F1317C
1318 14.6
1319 10.9 G1319V
1320 9.6 M1320I M1320I M1320I
1321 11.3
1322 6.5
1323 5.6
1324 5.6
1325 4.8 N1325S
1327 4.5
1328 5.6
1329 5.2 G1329S
1330 5.8 A1330T
1331 8.6
1332 10.1 P1332L
1333 10.4
1334 10.7 I1334V
1335 13.9 M1335R
1465 13.3
1466 12.6
1467 12.6
1468 10.2
1469 7.6
1470 10.5
1471 10.7
1472 6.1 p.N1472del
1473 5.7 F1473C
1474 10.7
1475 9.6
1476 6.1 Q1476R
1477 10
1478 12.8
1479 9.7
1480 11.5
1656 12.3
1657 13.9
1659 12.6
1660 10.9 I1660V
1661 14.9 G1661R G1661R
1663 11.6
1664 14.8
1757 14.4
1758 12.7 p.I1758del
1759 14.4
1761 14.2 L1761H
1762 9.6 I1762M
1763 10.1 V1763M
1764 13.4
1765 11.8
1766 7.1 M1766T M1766V
1767 13.4 Y1767C
1768 13.2 I1768V
1769 10.3
1770 10.8
1772 14.9
1773 12.6