A1050P Summary

SCN5A A1050P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1050P is not present in gnomAD. A1050P has been functionally characterized in 0 papers. Other variants at the same resdue are A1050D .A1050G .A1050P .A1050S .A1050T .A1050V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1050P 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	0.766

A1050P 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
1035	14.7
1036	14.2
1037	13.7
1038	13.2
1039	12.6
1040	12	G1040R G1040R
1041	11.4	D1041N
1042	10.7
1043	10.1
1044	9.3
1045	8.5	V1045M
1046	7.6
1047	6.6
1048	5.4
1049	3.8
1051	3.8
1052	5.4
1053	6.6	E1053K
1054	7.6
1055	8.5
1056	9.3
1057	10.1
1058	10.7
1059	11.4
1060	12
1061	12.6	E1061D E1061D
1062	13.2
1063	13.7
1064	14.2	p.E1064del
1065	14.7