A1881S Summary

SCN5A A1881S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1881S is not present in gnomAD. A1881S has been functionally characterized in 0 papers. Other variants at the same resdue are A1881E .A1881G .A1881P .A1881S .A1881T .A1881V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1881S 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 0.697

A1881S has 19 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
1839 12.3
1855 14.1
1859 14.8
1872 14.8
1873 10.2
1874 11.8
1875 10.2 p.M1875dup
1876 9.6
1877 7.7
1878 6.7
1879 7
1880 5.3 M1880V
1882 3.6
1883 5.8
1884 4.8 P1884L
1885 6.3
1886 9.1
1887 9.4
1888 13.2