A1711T Summary

SCN5A A1711T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1711T is not present in gnomAD. A1711T has been functionally characterized in 0 papers. Other variants at the same resdue are A1711D .A1711G .A1711P .A1711S .A1711T .A1711V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1711T 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 0.93

A1711T has 72 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
367 12.1 R367C R367H
368 11.9
370 12.3 T370M
371 8.4 Q371E
372 9.6
373 7.7
374 6.3
375 5.5
376 10.6 R376H
377 11.5
378 9.7
379 10.2
380 14.1
382 14.6
393 12.5
394 14.5
397 11.6 I397V
401 13.9
402 13.5 F402L F402L F402L
893 14.6 R893C R893H
896 14.4
897 12
898 11.2
899 14.7
900 14.3
901 14.9 E901K
1413 13.5
1414 10.6
1415 13.7
1416 12.9
1417 9.2
1418 10.7
1419 6.1
1420 10.6 G1420R G1420V
1421 12.5
1422 14.3
1423 15
1664 14.6
1668 13.4
1686 13.1
1687 11.1
1688 13.7
1692 12.1
1694 14.8
1700 14
1701 14.1 M1701I M1701I M1701I
1702 11.9
1703 9.4
1704 9.8
1705 9.7
1706 4.8
1707 5.9
1708 7.7
1709 5.3 T1709M
1710 4.1 S1710L
1712 3.8 G1712S
1713 5.4
1714 9.4
1715 9
1716 8.4
1717 11.1
1718 13.8
1719 14.4
1751 14.3
1752 10.6
1753 14.2
1755 10.9
1756 10.5
1759 11.4
1760 9.7
1761 13.7 L1761H
1764 12.9