A1941D Summary

SCN5A A1941D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1941D is not present in gnomAD. A1941D has been functionally characterized in 0 papers. Other variants at the same resdue are A1941D .A1941G .A1941P .A1941S .A1941T .A1941V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1941D 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	0.65

A1941D 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
1926	14.7
1927	14.2
1928	13.7
1929	13.2	R1929C R1929H
1930	12.6
1931	12
1932	11.4	A1932V
1933	10.7	G1933A G1933D
1934	10.1
1935	9.3	G1935S
1936	8.5
1937	7.6
1938	6.6	E1938K
1939	5.4
1940	3.8
1942	3.8
1943	5.4
1944	6.6	R1944Q
1945	7.6
1946	8.5
1947	9.3
1948	10.1
1949	10.7	A1949T
1950	11.4
1951	12	V1951L V1951M
1952	12.6
1953	13.2
1954	13.7	E1954K
1955	14.2
1956	14.7