E1208Q Summary

SCN5A E1208Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1208Q is not present in gnomAD. E1208Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1208A .E1208D .E1208D .E1208G .E1208K .E1208Q .E1208V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

E1208Q 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	0.887

E1208Q has 32 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
1206	7.6
1207	4.1
1209	5.1
1210	8.5	F1210S
1211	6.4
1212	7.3	p.I1212del
1213	11.5
1214	11.1
1215	11.6	I1215V
1216	13.4
1249	13.9
1250	14.3
1252	13.6
1253	10.3
1254	13.9
1256	11.7
1257	9.9
1260	12.6
1261	12
1266	14.4
1271	14
1272	13.2
1275	13.3	D1275N
1309	11.9	R1309H
1310	13.5
1312	10.5
1313	10
1314	14.3
1315	13.2
1316	7.9	R1316Q
1317	14	F1317C
1321	14.7