A1949D Summary

SCN5A A1949D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1949D is not present in gnomAD. A1949D has been functionally characterized in 0 papers. Other variants at the same resdue are A1949D .A1949G .A1949P .A1949S .A1949T .A1949V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A1949D 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	0.778

A1949D 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
1934	14.7
1935	14.2	G1935S
1936	13.7
1937	13.2
1938	12.6	E1938K
1939	12
1940	11.4
1941	10.7
1942	10.1
1943	9.3
1944	8.5	R1944Q
1945	7.6
1946	6.6
1947	5.4
1948	3.8
1950	3.8
1951	5.4	V1951L V1951M
1952	6.6
1953	7.6
1954	8.5	E1954K
1955	9.3
1956	10.1
1957	10.7
1958	11.4	R1958Q
1959	12
1960	12.6
1961	13.2
1962	13.7	P1962L
1963	14.2	P1963L
1964	14.7	S1964F