A1882V Summary

SCN5A A1882V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1882V is not present in gnomAD. A1882V has been functionally characterized in 0 papers. Other variants at the same resdue are A1882D .A1882G .A1882P .A1882S .A1882T .A1882V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1882V 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

A1882V has 15 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
1873 12.1
1874 13.3
1875 10.2 p.M1875dup
1876 10.3
1877 10.1
1878 7.4
1879 6.2
1880 7.3 M1880V
1881 3.6
1883 3.9
1884 5 P1884L
1885 4.7
1886 6.3
1887 8.2
1888 12.3