A1581S Summary

SCN5A A1581S was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1581S is present in 1 out of 31386 alleles in gnomAD (minor allele frequency of 0.003186%). A1581S has been functionally characterized in 0 papers. Other variants at the same resdue are A1581D .A1581G .A1581P .A1581S .A1581T .A1581V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1581S 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
Tolerated	0.596	-0.77	possiblydamaging	0.607	0.3249	-1.01	0	0.651

A1581S has 43 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
1508	14.9
1509	12.7
1510	7.9
1511	9.2
1512	8.4	R1512Q R1512W
1513	6.6
1514	11.6
1515	11.9	N1515S
1516	13.7
1517	12.7
1518	6.6
1519	7.9
1520	10.8
1521	5.9
1522	4.9
1523	9	D1523N
1524	8.9	I1524T
1525	6.4	V1525M
1526	8.9	T1526P
1527	12.7
1530	11.4
1531	13.2
1572	14.5
1573	11.8
1574	11.4	E1574K
1575	10.2
1576	9.2
1577	6.4
1578	6.9
1579	6.1
1580	3.6
1582	3.8
1583	5.8	R1583C R1583H
1584	9.4
1585	8.5
1586	8.5
1587	11.4
1588	12.6
1589	12.8
1592	11.4
1593	14.8	I1593M
1595	14.5
1596	14	F1596I