C686G Summary

SCN5A C686G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C686G is not present in gnomAD. C686G has been functionally characterized in 0 papers. Other variants at the same resdue are C686F .C686G .C686R .C686S .C686S .C686W .C686Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C686G 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	0.849

C686G 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
671	14.7
672	14.2	A672T
673	13.7
674	13.2
675	12.6
676	12
677	11.4
678	10.7
679	10.1
680	9.3	R680C
681	8.5
682	7.6
683	6.6	C683R
684	5.4
685	3.8
687	3.8
688	5.4
689	6.6	R689C R689H
690	7.6
691	8.5	A691S A691T
692	9.3	Q692K
693	10.1	R693C R693H
694	10.7	Y694C
695	11.4
696	12
697	12.6
698	13.2
699	13.7
700	14.2
701	14.7	P701L