D1819E Summary

SCN5A D1819E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1819E is not present in gnomAD. D1819E has been functionally characterized in 0 papers. Other variants at the same resdue are D1819A .D1819E .D1819E .D1819G .D1819H .D1819N .D1819V .D1819Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1819E 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	0.609

D1819E has 36 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
1793	12.6	M1793K
1794	12.3
1796	15
1797	10.1
1798	13.7
1800	12.5
1801	10.6
1809	13.9
1811	14.3
1812	13	S1812L
1813	10.6
1814	9.5
1815	6.4
1816	5.9
1817	7.4
1818	4.6
1820	4.4	A1820T
1821	6.4
1822	8.9
1823	10.3	E1823K
1824	12.1
1825	10.2	L1825P
1826	6.1	R1826C R1826H
1827	6.3
1828	5.1	A1828T
1829	5.1
1830	9
1831	7.5
1832	12	Q1832E
1833	14.3
1834	12.1
1835	11
1838	15
1853	13.6
1857	11.4
1860	13