D1839E Summary

SCN5A D1839E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1839E is not present in gnomAD. D1839E has been functionally characterized in 0 papers. Other variants at the same resdue are D1839A .D1839E .D1839E .D1839G .D1839H .D1839N .D1839V .D1839Y . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

D1839E 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	0.881

D1839E has 41 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
1498	14.4	M1498R M1498T
1501	13.7	L1501V
1809	14.5
1811	12.8
1814	12.7
1827	14.5
1832	14	Q1832E
1833	14
1834	11.5
1835	9.9
1836	9.5	I1836T
1837	8.8
1838	5.8
1840	4.8
1841	5.9
1842	10.2	M1842L M1842L
1843	13.3
1846	14.9
1848	10.1
1849	11.8	H1849R
1850	12.8
1851	11.7
1852	6.9
1853	9
1854	11.4
1855	7.4
1856	6.5
1857	9.8
1858	11.8
1859	8.9
1860	11.5
1861	14.6
1862	14.7
1863	14.6
1876	13.2
1877	10.9
1879	15
1880	8.9	M1880V
1881	12.3
1883	14.6
1884	13.5	P1884L