D454G Summary

SCN5A D454G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D454G is not present in gnomAD. D454G has been functionally characterized in 0 papers. Other variants at the same resdue are D454A .D454E .D454E .D454G .D454H .D454N .D454V .D454Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D454G 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	0.539

D454G 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
439	14.7
440	14.2
441	13.7
442	13.2
443	12.6
444	12
445	11.4	H445D
446	10.7	E446K
447	10.1	A447G
448	9.3
449	8.5	T449A
450	7.6
451	6.6
452	5.4
453	3.8	V453M
455	3.8
456	5.4	V456M
457	6.6
458	7.6	R458C R458H
459	8.5
460	9.3
461	10.1	L461V
462	10.7	E462K
463	11.4	M463R
464	12
465	12.6
466	13.2	L466F L466F
467	13.7
468	14.2	P468L
469	14.7