D872N Summary

SCN5A D872N was found in 0 papers (see below) with a total of 4 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D872N is present in 4 out of 251154 alleles in gnomAD (minor allele frequency of 0.001593%). D872N has been functionally characterized in 0 papers. Other variants at the same resdue are D872A .D872E .D872E .D872G .D872H .D872N .D872V .D872Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D872N 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	0.508	-0.42	probablydamaging	0.999	2.468	0.61	2	0.371

D872N has 27 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
321	12.2
322	9.6
323	14.1
346	13.7	E346K
347	14.5
348	13.5
349	10.8	D349N
350	9.4
351	13.3	G351S G351V
352	14.7
865	14
868	11.9
869	12.7
870	7.6
871	4.5
873	4.1
874	6.1	G874D
875	10.2
876	11.6
877	10.7
878	13.1	R878C R878H
901	13.2	E901K
904	13.7
905	10.4
906	15
908	9.6
909	12.4