C1004G Summary

SCN5A C1004G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1004G is not present in gnomAD. C1004G has been functionally characterized in 0 papers. Other variants at the same resdue are C1004F .C1004G .C1004R .C1004S .C1004S .C1004W .C1004Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C1004G 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	0.716

C1004G 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
989	14.7
990	14.2
991	13.7
992	13.2
993	12.6	A993T
994	12
995	11.4	L995F
996	10.7
997	10.1	A997D A997S A997T
998	9.3
999	8.5
1000	7.6	p.Gln1000del
1001	6.6
1002	5.4	P1002S
1003	3.8
1005	3.8
1006	5.4
1007	6.6
1008	7.6	P1008S
1009	8.5
1010	9.3
1011	10.1	P1011L P1011S
1012	10.7
1013	11.4
1014	12	P1014S
1015	12.6
1016	13.2	T1016M
1017	13.7
1018	14.2
1019	14.7