A1640G Summary

SCN5A A1640G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1640G is not present in gnomAD. A1640G has been functionally characterized in 0 papers. Other variants at the same resdue are A1640D .A1640G .A1640P .A1640S .A1640T .A1640V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A1640G 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	0.915

A1640G has 35 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
249	13.1
250	13.7
251	10.8
252	7.1
253	11.2
254	13.7
255	10
256	11
257	14.8
259	14.1
1633	11.9
1634	11.4
1635	13.8
1636	10.2
1637	6
1638	8.5	R1638Q
1639	3.4	G1639A
1641	5
1642	5.2
1643	5.7
1644	7.2	R1644C R1644H
1645	8.4	T1645M
1646	10
1647	10.2
1648	13.4
1649	14.5
1778	14.8
1779	14.5	T1779M
1782	13.4
1787	13.6	S1787N
1789	11.1
1790	13.6	D1790G D1790N
1793	14.1	M1793K
1822	14.4
1823	14.4	E1823K