A1561G Summary

SCN5A A1561G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1561G is not present in gnomAD. A1561G has been functionally characterized in 0 papers. Other variants at the same resdue are A1561D .A1561G .A1561P .A1561S .A1561T .A1561V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A1561G 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 0.381

A1561G has 39 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
270 14.2 Q270K
1537 14.6
1540 14
1541 11.5
1543 14 V1543A V1543L V1543L
1544 9.6
1545 11.3
1547 12.1
1548 10.9 E1548K G1548K
1549 14.7
1552 14.6
1553 12.2
1554 11.1
1555 11.6
1556 9.7
1557 6.9
1558 5.9
1559 5.8 I1559V
1560 4.8 L1560F L1560F
1562 4.6
1563 5.5
1564 4.7
1565 5.7
1566 9.1
1567 9.5
1568 10.3
1569 12.4
1570 14.1 p.1570_F1571insI p.I1570dup
1571 14.1
1602 12
1603 14.7
1605 11.5 G1605C
1606 9.8 T1606I
1607 13.9
1609 14.4 S1609L
1619 13.7
1622 12.7
1623 13.1 R1623L R1623Q
1626 12.1 R1626C R1626H R1626P