C1703S Summary

SCN5A C1703S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1703S is not present in gnomAD. C1703S has been functionally characterized in 0 papers. Other variants at the same resdue are C1703F .C1703G .C1703R .C1703S .C1703S .C1703W .C1703Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C1703S 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 0.933

C1703S has 80 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
331 13.6
332 14.5 A332T
333 14.3
374 11.1
375 9.7
376 14 R376H
377 14.3
378 8.4
379 8.8
380 14.3
381 13.9
382 10.8
383 13.2
386 13.5 G386E G386R G386R
387 11.6
388 14.9
390 10.9
393 12.9
394 13.6
1226 14.9
1419 14.6
1664 14
1665 13.8
1667 13.3 V1667I
1668 9.2
1669 13.6
1670 14.2
1671 11.9
1672 9.3 S1672Y
1673 13.3
1674 14.2 F1674V
1675 10.9
1676 10.7 M1676I M1676I M1676I
1677 14.7
1678 14.5 N1678S
1679 10.5
1680 13.2 A1680T
1682 13
1684 13.7
1685 13.9
1686 12.4
1687 8.8
1688 8.6
1689 10.3
1690 12.3 D1690N
1691 9.1
1692 5.7
1693 7.3
1694 6.5
1695 11.2
1696 10.1
1697 11.1
1698 8.4 A1698T
1699 6.5
1700 5.2
1701 7.1 M1701I M1701I M1701I
1702 4.8
1704 4.8
1705 7.1
1706 5.4
1707 6.3
1708 9.5
1709 11.1 T1709M
1710 12.1 S1710L
1711 9.4
1712 9.1 G1712S
1713 10.4
1714 13.2
1715 10.3
1716 7
1717 11.6
1718 13.8
1719 11.9
1720 11.9
1748 13.7
1751 11.3
1752 10.3
1755 10.8
1756 14
1759 13.8