E1318Q Summary

SCN5A E1318Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1318Q is not present in gnomAD. E1318Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1318A .E1318D .E1318D .E1318G .E1318K .E1318Q .E1318V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1318Q 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	0.801

E1318Q 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
1312	12.7
1313	11.6
1314	10.3
1315	9.6
1316	9.1	R1316Q
1317	4.9	F1317C
1319	4.4	G1319V
1320	7.7	M1320I M1320I M1320I
1321	5.5
1322	8.4
1323	10.4
1324	11.6
1325	12.1	N1325S
1326	14.6
1476	13	Q1476R
1477	13.1
1479	15
1480	10.1
1481	13.5
1652	14.5
1653	13.5
1654	13.7
1655	9.2
1656	9.5
1657	13.3
1658	12.2
1659	8.6
1660	13.1	I1660V
1661	14.5	G1661R G1661R
1662	12.3
1663	14.5
1770	14.4