A1580G Summary

SCN5A A1580G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1580G is not present in gnomAD. A1580G has been functionally characterized in 0 papers. Other variants at the same resdue are A1580D .A1580G .A1580P .A1580S .A1580T .A1580V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1580G 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	0.467

A1580G 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
1510	11.2
1511	12
1512	11	R1512Q R1512W
1513	8
1514	12.3
1515	11.7	N1515S
1516	12.5
1517	11.7
1518	5.8
1519	9.1
1520	11.4
1521	6
1522	8
1523	11.3	D1523N
1524	10.2	I1524T
1525	8.8	V1525M
1526	11.9	T1526P
1527	14.7
1530	12.6
1572	12.4
1573	10.3
1574	11	E1574K
1575	8.8
1576	6.7
1577	5.8
1578	7.6
1579	4.3
1581	3.6
1582	6.1
1583	5.6	R1583C R1583H
1584	9.6
1585	10.7
1586	8.8
1587	11.4
1588	14.2
1589	14.5
1592	12.2
1593	14.9	I1593M
1595	14.4
1596	12.6	F1596I