C1742G Summary

SCN5A C1742G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1742G is not present in gnomAD. C1742G has been functionally characterized in 0 papers. Other variants at the same resdue are C1742F .C1742G .C1742R .C1742S .C1742S .C1742W .C1742Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C1742G 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 0.931

C1742G has 43 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
1300 14.8
1675 14.4
1677 13.1
1678 11.3 N1678S
1679 10.6
1680 9.2 A1680T
1681 9.8 Y1681F
1682 6.9
1683 7.2
1684 13.7
1685 12.6
1688 14.5
1694 13.9
1695 14.1
1718 13.6
1719 11.3
1720 9.9
1721 10.8
1722 8.4 N1722D
1723 12.8 T1723N
1724 12.8
1725 11.5 P1725L
1726 14.3
1727 12.7
1728 9.6
1729 9.7 D1729N
1730 8.7 P1730A P1730H P1730L
1731 5
1732 5.9
1733 9.5
1734 10.7
1735 13
1737 13.2 G1737D
1738 10.3
1739 7.6 R1739Q R1739W
1740 4.8 G1740R G1740R
1741 5.3 D1741N
1743 3.8 G1743E G1743R G1743R
1744 7.4 S1744I
1745 9.6
1746 12.7 A1746T A1746V
1747 11.5 V1747M
1748 13.1