D1816N Summary

SCN5A D1816N was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1816N is present in 1 out of 249912 alleles in gnomAD (minor allele frequency of 0.0004%). D1816N has been functionally characterized in 0 papers. Other variants at the same resdue are D1816A .D1816E .D1816E .D1816G .D1816H .D1816N .D1816V .D1816Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1816N 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
Tolerated	0.083	-3.46	benign	0.024	0.8776	1.1	2	0.382

D1816N 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	14.9	M1793K
1794	13.1
1797	10.2
1798	11.7
1799	14.7
1800	11
1801	7.1
1802	13.3
1803	14.7
1809	9.9
1810	9.9
1811	10.5
1812	7.6	S1812L
1813	5.2
1814	6.7
1815	4.1
1817	6.5
1818	6.4
1819	5.9	D1819N
1820	7	A1820T
1821	9.5
1822	13.3
1825	13.8	L1825P
1826	11.6	R1826C R1826H
1827	9.9
1828	9.9	A1828T
1829	7.1
1830	11.3
1831	8.8
1832	11	Q1832E
1834	13.7
1835	11.1
1840	14.8
1848	13.2
1853	13
1857	13