A611V Summary

SCN5A A611V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A611V is not present in gnomAD. A611V has been functionally characterized in 0 papers. Other variants at the same resdue are A611D .A611G .A611P .A611S .A611T .A611V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A611V 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	0.422

A611V 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
596	14.7
597	14.2
598	13.7
599	13.2	G599R G599R
600	12.6
601	12
602	11.4
603	10.7
604	10.1	L604V
605	9.3
606	8.5
607	7.6	G607V
608	6.6	D608N
609	5.4
610	3.8
612	3.8
613	5.4
614	6.6
615	7.6	G615E
616	8.5
617	9.3
618	10.1	L618F
619	10.7	L619F
620	11.4	R620C R620H
621	12
622	12.6
623	13.2
624	13.7	L624Q
625	14.2	E625D E625D
626	14.7