A60D Summary

SCN5A A60D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A60D is not present in gnomAD. A60D has been functionally characterized in 0 papers. Other variants at the same resdue are A60D .A60G .A60P .A60S .A60T .A60V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A60D 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	0.763

A60D 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
45	14.7
46	14.2
47	13.7
48	13.2	E48K
49	12.6
50	12
51	11.4	A51V
52	10.7	P52S
53	10.1	R53Q
54	9.3
55	8.5
56	7.6
57	6.6
58	5.4
59	3.8
61	3.8
62	5.4
63	6.6	K63N K63N
64	7.6
65	8.5
66	9.3
67	10.1
68	10.7
69	11.4	G69D
70	12	N70K N70K N70S
71	12.6
72	13.2
73	13.7
74	14.2	E74D E74D
75	14.7