D953G Summary

SCN5A D953G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D953G is not present in gnomAD. D953G has been functionally characterized in 0 papers. Other variants at the same resdue are D953A .D953E .D953E .D953G .D953H .D953N .D953V .D953Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D953G 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	0.86

D953G 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
938	14.7
939	14.2
940	13.7
941	13.2	S941N
942	12.6
943	12
944	11.4
945	10.7	D945G
946	10.1
947	9.3
948	8.5
949	7.6
950	6.6
951	5.4
952	3.8
954	3.8
955	5.4
956	6.6
957	7.6
958	8.5
959	9.3	L959P
960	10.1
961	10.7
962	11.4
963	12
964	12.6
965	13.2	R965C R965H
966	13.7
967	14.2
968	14.7