D596A Summary

SCN5A D596A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D596A is not present in gnomAD. D596A has been functionally characterized in 0 papers. Other variants at the same resdue are D596A .D596E .D596E .D596G .D596H .D596N .D596V .D596Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D596A 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	0.825

D596A has 30 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
581	14.7	S581L
582	14.2
583	13.7
584	13.2	G584R
585	12.6
586	12	A586T
587	11.4
588	10.7
589	10.1
590	9.3
591	8.5
592	7.6	N592K N592K N592S
593	6.6
594	5.4
595	3.8
597	3.8
598	5.4
599	6.6	G599R G599R
600	7.6
601	8.5
602	9.3
603	10.1
604	10.7	L604V
605	11.4
606	12
607	12.6	G607V
608	13.2	D608N
609	13.7
610	14.2
611	14.7