C981S Summary

SCN5A C981S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C981S is not present in gnomAD. C981S has been functionally characterized in 0 papers. Other variants at the same resdue are C981A .C981F .C981G .C981R .C981S .C981S .C981W .C981Y . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

C981S 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	0.756

C981S 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
966	14.7
967	14.2
968	13.7
969	13.2	G969C
970	12.6
971	12	R971C R971H
972	11.4
973	10.7
974	10.1
975	9.3	R975Q R975W
976	8.5
977	7.6
978	6.6
979	5.4
980	3.8
982	3.8	C982R
983	5.4	G983D
984	6.6
985	7.6
986	8.5	R986L R986Q R986W
987	9.3
988	10.1	R988Q R988W
989	10.7
990	11.4
991	12
992	12.6
993	13.2	A993T
994	13.7
995	14.2	L995F
996	14.7