A1932G Summary

SCN5A A1932G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1932G is not present in gnomAD. A1932G has been functionally characterized in 0 papers. Other variants at the same resdue are A1932E .A1932G .A1932P .A1932S .A1932T .A1932V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1932G 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	0.195

A1932G has 30 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
1917	14.7
1918	14.2
1919	13.7	R1919C R1919H
1920	13.2
1921	12.6
1922	12	K1922N K1922N
1923	11.4
1924	10.7	A1924T
1925	10.1
1926	9.3
1927	8.5
1928	7.6
1929	6.6	R1929C R1929H
1930	5.4
1931	3.8
1933	3.8	G1933A G1933D
1934	5.4
1935	6.6	G1935S
1936	7.6
1937	8.5
1938	9.3	E1938K
1939	10.1
1940	10.7
1941	11.4
1942	12
1943	12.6
1944	13.2	R1944Q
1945	13.7
1946	14.2
1947	14.7