C683S Summary

SCN5A C683S was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. C683S is present in 1 out of 248006 alleles in gnomAD (minor allele frequency of 0.000403%). C683S has been functionally characterized in 0 papers. Other variants at the same resdue are C683F .C683G .C683R .C683S .C683S .C683W .C683Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

C683S 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
Damaging	0	-9.52	benign	0.085	1.396	-1.33	-3	0.844

C683S 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
668	14.7	V668I
669	14.2
670	13.7
671	13.2
672	12.6	A672T
673	12
674	11.4
675	10.7
676	10.1
677	9.3
678	8.5
679	7.6
680	6.6	R680C
681	5.4
682	3.8
684	3.8
685	5.4
686	6.6
687	7.6
688	8.5
689	9.3	R689C R689H
690	10.1
691	10.7	A691S A691T
692	11.4	Q692K
693	12	R693C R693H
694	12.6	Y694C
695	13.2
696	13.7
697	14.2
698	14.7