D945A Summary

SCN5A D945A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D945A is not present in gnomAD. D945A has been functionally characterized in 0 papers. Other variants at the same resdue are D945A .D945E .D945E .D945G .D945H .D945N .D945V .D945Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D945A 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	0.903

D945A 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
930	14.7
931	14.2
932	13.7
933	13.2
934	12.6
935	12
936	11.4
937	10.7
938	10.1
939	9.3
940	8.5
941	7.6	S941N
942	6.6
943	5.4
944	3.8
946	3.8
947	5.4
948	6.6
949	7.6
950	8.5
951	9.3
952	10.1
953	10.7	D953E D953E
954	11.4
955	12
956	12.6
957	13.2
958	13.7
959	14.2	L959P
960	14.7