A1820D Summary

SCN5A A1820D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1820D is not present in gnomAD. A1820D has been functionally characterized in 0 papers. Other variants at the same resdue are A1820D .A1820G .A1820P .A1820S .A1820T .A1820V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1820D 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	0.852

A1820D 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
1638	14.3	R1638Q
1789	14.1
1790	12.4	D1790G D1790N
1791	14.3
1792	13.8	D1792N
1793	8.6	M1793K
1794	9.2
1795	12.6	p.Y1795_E1796insD Y1795C Y1795H
1796	10.6
1797	5.9
1798	10.7
1799	12.4
1800	8.8
1801	8.1
1802	14
1809	12.8
1812	14	S1812L
1813	10.6
1814	10.2
1815	8.7
1816	7
1817	5.6
1818	5.3
1819	4.4	D1819N
1821	3.9
1822	6.7
1823	9.9	E1823K
1824	11.5
1825	9	L1825P
1826	6.5	R1826C R1826H
1827	8.4
1828	8.8	A1828T
1829	9.3
1830	13.3
1831	11.1
1834	14.9
1835	13.2
1850	14.9
1853	12.6
1854	14
1857	11.2
1860	14.2
1861	14.9