D1143E Summary

SCN5A D1143E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1143E is not present in gnomAD. D1143E has been functionally characterized in 0 papers. Other variants at the same resdue are D1143A .D1143E .D1143E .D1143G .D1143H .D1143N .D1143V .D1143Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1143E 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	0.611

D1143E 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
1128	14.7
1129	14.2	G1129S
1130	13.7
1131	13.2	T1131I
1132	12.6
1133	12
1134	11.4
1135	10.7	S1135I
1136	10.1
1137	9.3
1138	8.5
1139	7.6
1140	6.6
1141	5.4
1142	3.8
1144	3.8
1145	5.4
1146	6.6
1147	7.6	T1147N T1147S T1147S
1148	8.5	A1148T
1149	9.3
1150	10.1
1151	10.7
1152	11.4
1153	12	Q1153H Q1153H
1154	12.6	I1154N
1155	13.2	P1155S
1156	13.7	D1156G
1157	14.2
1158	14.7	G1158S