D66V Summary

SCN5A D66V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D66V is not present in gnomAD. D66V has been functionally characterized in 0 papers. Other variants at the same resdue are D66A .D66E .D66E .D66G .D66H .D66N .D66V .D66Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D66V 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	0.565

D66V 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
51	14.7	A51V
52	14.2	P52S
53	13.7	R53Q
54	13.2
55	12.6
56	12
57	11.4
58	10.7
59	10.1
60	9.3	A60P
61	8.5
62	7.6
63	6.6	K63N K63N
64	5.4
65	3.8
67	3.8
68	5.4
69	6.6	G69D
70	7.6	N70K N70K N70S
71	8.5
72	9.3
73	10.1
74	10.7	E74D E74D
75	11.4
76	12
77	12.6
78	13.2
79	13.7	P79A
80	14.2
81	14.7