D1523G Summary

SCN5A D1523G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1523G is not present in gnomAD. D1523G has been functionally characterized in 0 papers. Other variants at the same resdue are D1523A .D1523E .D1523E .D1523G .D1523H .D1523N .D1523V .D1523Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1523G 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	0.974

D1523G 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
1509	13.8
1510	11.3
1511	12.3
1512	7.1	R1512Q R1512W
1513	9.9
1514	12.6
1515	12.5	N1515S
1516	13.8
1517	11.5
1518	9.7
1519	5.2
1520	5.9
1521	6.7
1522	4.7
1524	5.2	I1524T
1525	6.9	V1525M
1526	5.5	T1526P
1527	6.9
1528	10.9
1529	11.3
1530	10
1531	12
1573	14.9
1574	14.7	E1574K
1576	14.2
1577	9.8
1578	11.9
1579	14.4
1580	11.3
1581	9
1582	11.5
1583	14.4	R1583C R1583H
1799	15
1800	13.6
1803	14.8