D608A Summary

SCN5A D608A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D608A is not present in gnomAD. D608A has been functionally characterized in 0 papers. Other variants at the same resdue are D608A .D608E .D608E .D608G .D608H .D608N .D608V .D608Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D608A 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	0.401

D608A 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
593	14.7
594	14.2
595	13.7
596	13.2
597	12.6
598	12
599	11.4	G599R G599R
600	10.7
601	10.1
602	9.3
603	8.5
604	7.6	L604V
605	6.6
606	5.4
607	3.8	G607V
609	3.8
610	5.4
611	6.6
612	7.6
613	8.5
614	9.3
615	10.1	G615E
616	10.7
617	11.4
618	12	L618F
619	12.6	L619F
620	13.2	R620C R620H
621	13.7
622	14.2
623	14.7