D57V Summary

SCN5A D57V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D57V is not present in gnomAD. D57V has been functionally characterized in 0 papers. Other variants at the same resdue are D57A .D57E .D57E .D57G .D57H .D57N .D57V .D57Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D57V 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	0.938

D57V 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
42	14.7
43	14.2	R43Q
44	13.7
45	13.2
46	12.6
47	12
48	11.4	E48K
49	10.7
50	10.1
51	9.3	A51V
52	8.5	P52S
53	7.6	R53Q
54	6.6
55	5.4
56	3.8
58	3.8
59	5.4
60	6.6	A60P
61	7.6
62	8.5
63	9.3	K63N K63N
64	10.1
65	10.7
66	11.4
67	12
68	12.6
69	13.2	G69D
70	13.7	N70K N70K N70S
71	14.2
72	14.7