A1828P Summary

SCN5A A1828P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1828P is not present in gnomAD. A1828P has been functionally characterized in 0 papers. Other variants at the same resdue are A1828D .A1828G .A1828P .A1828S .A1828T .A1828V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1828P 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 0.385

A1828P has 33 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
1794 14.9
1797 14.2
1813 14
1814 11.5
1815 8.4
1816 9.9
1817 10.9
1818 6.7
1819 5.1 D1819N
1820 8.8 A1820T
1821 8.9
1822 10.4
1823 9.5 E1823K
1824 11
1825 10.5 L1825P
1826 6 R1826C R1826H
1827 4.5
1829 4.9
1830 5.8
1831 5.7
1832 10.8 Q1832E
1833 11.3
1834 9
1835 9.8
1836 14 I1836T
1837 14
1838 13.2
1853 14.9
1856 14.8
1857 11.3
1860 10.3
1861 13.2
1864 11.7