A647V Summary

SCN5A A647V was found in 0 papers (see below) with a total of 3 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A647V is present in 3 out of 247954 alleles in gnomAD (minor allele frequency of 0.00121%). A647V has been functionally characterized in 0 papers. Other variants at the same resdue are A647D .A647G .A647P .A647S .A647T .A647V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A647V 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
Tolerated	0.514	-0.55	benign	0	3.489	-0.95	-2	0.44

A647V 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
632	14.7	T632M
633	14.2
634	13.7	S634L
635	13.2
636	12.6
637	12
638	11.4
639	10.7	G639R G639R
640	10.1	P640A
641	9.3
642	8.5
643	7.6
644	6.6
645	5.4
646	3.8
648	3.8	P648L
649	5.4	C649Y
650	6.6
651	7.6
652	8.5
653	9.3
654	10.1	E654K
655	10.7	E655K
656	11.4	P656L
657	12
658	12.6
659	13.2	R659Q R659W
660	13.7
661	14.2	R661W
662	14.7	A662S