E1435A Summary

SCN5A E1435A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1435A is not present in gnomAD. E1435A has been functionally characterized in 0 papers. Other variants at the same resdue are E1435A .E1435D .E1435D .E1435G .E1435K .E1435Q .E1435V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1435A 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	0.841

E1435A 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
738	14.8
739	10.6
740	12.1
741	13.2
1355	14.2
1356	14.2
1357	11.5	A1357V
1358	8.3
1359	9.4
1360	13
1361	9.4
1362	13.4
1363	12.6
1386	12.3
1387	10.1
1388	6.3
1389	8.5
1390	12.3
1391	13.7	G1391R G1391R
1395	9
1396	13.8
1397	13.5
1403	13.7
1430	14.2	D1430N
1431	11.4
1432	9.7	R1432S R1432S
1433	6.5	G1433W
1434	6.4
1436	5.3
1437	9.7
1438	10.8
1439	13.7