A1769G Summary

SCN5A A1769G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1769G is not present in gnomAD. A1769G has been functionally characterized in 0 papers. Other variants at the same resdue are A1769D .A1769G .A1769P .A1769S .A1769T .A1769V . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

A1769G 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 0.955

A1769G has 83 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
398 14.1
401 14.3
402 11.4 F402L F402L F402L
403 11.3
404 14.1
405 12.1
406 8.2 N406K N406K N406S
407 11.8
408 13.6
409 9.6 L409V
410 9.9
411 13.9 V411M
412 14
413 12 A413T
414 14.3
932 13.2
935 11.5
936 13
938 14.2
939 10.9
943 14.9
1319 13.9 G1319V
1320 14 M1320I M1320I M1320I
1322 11.2
1323 10.3
1324 13.9
1325 14.2 N1325S
1326 10.3
1327 12.4
1329 14.2 G1329S
1330 12.6 A1330T
1334 14.8 I1334V
1463 13.1
1464 13.8
1465 12.5
1466 7.3
1467 8.9
1468 10.1
1469 6.5
1470 5
1471 9.1
1472 9.3 p.N1472del
1473 5.4 F1473C
1474 9.1
1475 12.7
1476 11.4 Q1476R
1477 9.6
1478 13.8
1480 14.7
1649 12.3
1650 12.2
1652 12.5
1653 9.6
1654 13.3
1655 13.4
1656 10.1
1657 9.2
1658 14.2
1659 13.2
1660 10.1 I1660V
1661 14 G1661R G1661R
1663 14.2
1664 14.5
1759 14.1
1760 14.1
1761 13.4 L1761H
1762 11 I1762M
1763 10 V1763M
1764 9.4
1765 7.3
1766 6.4 M1766T M1766V
1767 7.3 Y1767C
1768 4.4 I1768V
1770 4.1
1771 5.7
1772 4.9
1773 5.7
1774 8.2
1775 10.7
1776 10.3
1777 12.1 V1777M
1778 14.3
1779 14.9 T1779M