D1057A Summary

SCN5A D1057A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1057A is not present in gnomAD. D1057A has been functionally characterized in 0 papers. Other variants at the same resdue are D1057A .D1057E .D1057E .D1057G .D1057H .D1057N .D1057V .D1057Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1057A 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	0.54

D1057A 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
1042	14.7
1043	14.2
1044	13.7
1045	13.2	V1045M
1046	12.6
1047	12
1048	11.4
1049	10.7
1050	10.1	A1050T
1051	9.3
1052	8.5
1053	7.6	E1053K
1054	6.6
1055	5.4
1056	3.8
1058	3.8
1059	5.4
1060	6.6
1061	7.6	E1061D E1061D
1062	8.5
1063	9.3
1064	10.1	p.E1064del
1065	10.7
1066	11.4	S1066G
1067	12
1068	12.6	G1068D
1069	13.2	T1069M
1070	13.7
1071	14.2	E1071K
1072	14.7	p.E1072del