D629E Summary

SCN5A D629E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D629E is not present in gnomAD. D629E has been functionally characterized in 0 papers. Other variants at the same resdue are D629A .D629E .D629E .D629G .D629H .D629N .D629V .D629Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D629E 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	0.518

D629E 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
614	14.7
615	14.2	G615E
616	13.7
617	13.2
618	12.6	L618F
619	12	L619F
620	11.4	R620C R620H
621	10.7
622	10.1
623	9.3
624	8.5	L624Q
625	7.6	E625D E625D
626	6.6
627	5.4	P627L
628	3.8
630	3.8	T630M
631	5.4
632	6.6	T632M
633	7.6
634	8.5	S634L
635	9.3
636	10.1
637	10.7
638	11.4
639	12	G639R G639R
640	12.6	P640A
641	13.2
642	13.7
643	14.2
644	14.7