A1905P Summary

SCN5A A1905P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1905P is not present in gnomAD. A1905P has been functionally characterized in 0 papers. Other variants at the same resdue are A1905D .A1905G .A1905P .A1905S .A1905T .A1905V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1905P 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 0.951

A1905P has 30 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
1890 14.7 E1890K
1891 14.2
1892 13.7
1893 13.2
1894 12.6
1895 12
1896 11.4 L1896P
1897 10.7 R1897Q R1897W
1898 10.1 R1898C R1898H
1899 9.3
1900 8.5
1901 7.6 E1901K E1901Q
1902 6.6
1903 5.4
1904 3.8 S1904L
1906 3.8 M1906T
1907 5.4
1908 6.6
1909 7.6
1910 8.5
1911 9.3
1912 10.1
1913 10.7 R1913C R1913H R1913S
1914 11.4 R1914G
1915 12 H1915Y
1916 12.6
1917 13.2
1918 13.7
1919 14.2 R1919C R1919H
1920 14.7