D720E Summary

SCN5A D720E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D720E is not present in gnomAD. D720E has been functionally characterized in 0 papers. Other variants at the same resdue are D720A .D720E .D720E .D720G .D720H .D720N .D720V .D720Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D720E 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	0.705

D720E has 49 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
710	12.5
711	13.5
712	12.9
713	9.1
714	7.5	V714A
715	10.5
716	7
717	7.2	P717L
718	7.9
719	4.3
721	5.7
722	6.5
723	5	I723V
724	6.6	T724I
725	9.4
726	10.1
727	10.2
728	12.9	V728I
729	14.7
756	14.6
759	12.1	I759V
760	11.2
761	14.6
762	12.7
763	8.6	E763K
764	10.5	M764K
765	14.5
766	13
767	8.9
768	14.7
770	13.9
771	13.2
776	13.5
779	14.2	Q779K
780	14.9
781	11.6
782	11.6
784	13.9
785	11.2	D785N
788	15
814	14.5	R814Q
817	9
818	11.2
819	12.6
820	8.5
821	8.8
822	13.1
823	14
826	14.5