A1569G Summary

SCN5A A1569G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1569G is not present in gnomAD. A1569G has been functionally characterized in 0 papers. Other variants at the same resdue are A1569D .A1569G .A1569P .A1569S .A1569T .A1569V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1569G 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 0.435

A1569G has 40 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
1530 13.5
1533 13.7 T1533I
1534 11.1
1537 10.2
1538 12.9
1540 13.7
1541 12.2
1561 12.4
1562 12.4
1563 10.8
1564 9.6
1565 7.1
1566 5.8
1567 7.2
1568 4.1
1570 4.1 p.1570_F1571insI p.I1570dup
1571 6.1
1572 4.8
1573 6.6
1574 9 E1574K
1575 9.8
1576 10
1577 12.4
1578 13.6
1595 13
1596 13.9 F1596I
1597 15 V1597M
1598 11.8
1599 8.9
1600 12.5
1601 13.9 L1601H
1602 9.3
1603 10.3
1604 14.3 V1604M
1605 13.1 G1605C
1606 10.3 T1606I
1607 11.6
1622 14.4
1626 12.8 R1626C R1626H R1626P
1629 13.5 R1629G R1629Q