E1133A Summary

SCN5A E1133A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1133A is not present in gnomAD. E1133A has been functionally characterized in 0 papers. Other variants at the same resdue are E1133A .E1133D .E1133D .E1133G .E1133K .E1133Q .E1133V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1133A 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	0.464

E1133A 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
1118	14.7
1119	14.2
1120	13.7
1121	13.2	A1121V
1122	12.6
1123	12
1124	11.4
1125	10.7	A1125G A1125V
1126	10.1
1127	9.3
1128	8.5
1129	7.6	G1129S
1130	6.6
1131	5.4	T1131I
1132	3.8
1134	3.8
1135	5.4	S1135I
1136	6.6
1137	7.6
1138	8.5
1139	9.3
1140	10.1
1141	10.7
1142	11.4
1143	12
1144	12.6
1145	13.2
1146	13.7
1147	14.2	T1147N T1147S T1147S
1148	14.7	A1148T