E1490Q Summary

SCN5A E1490Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1490Q is not present in gnomAD. E1490Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1490A .E1490D .E1490D .E1490G .E1490K .E1490Q .E1490V . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

E1490Q 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	0.855

E1490Q has 40 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
421	13.4
1478	13.8
1482	14
1483	12.6
1484	13.8
1485	12.8
1486	8.9
1487	9.7	M1487L M1487L
1488	4.6
1489	5.8	E1489D E1489D
1491	6
1492	8.2
1493	5.5	K1493R p.K1493del
1494	9.1
1495	11.8
1496	11.2
1497	12.4
1498	13.9	M1498R M1498T
1776	13.9
1777	12.5	V1777M
1778	14.1
1779	13.6	T1779M
1780	9.3
1781	10.9	E1781G
1782	12.9
1783	9.9
1784	7.1	E1784K
1785	9.7
1786	13.9	L1786Q
1861	14.7
1862	11.1
1863	14
1865	11.8
1866	11.8
1867	13.6
1868	8.4
1869	10.9
1870	14.7	A1870T
1872	13.6
1874	12.7