A51P Summary

SCN5A A51P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A51P is not present in gnomAD. A51P has been functionally characterized in 0 papers. Other variants at the same resdue are A51D .A51G .A51P .A51S .A51T .A51V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A51P 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	0.311

A51P 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
36	14.7
37	14.2	T37A
38	13.7
39	13.2
40	12.6
41	12
42	11.4
43	10.7	R43Q
44	10.1
45	9.3
46	8.5
47	7.6
48	6.6	E48K
49	5.4
50	3.8
52	3.8	P52S
53	5.4	R53Q
54	6.6
55	7.6
56	8.5
57	9.3
58	10.1
59	10.7
60	11.4	A60P
61	12
62	12.6
63	13.2	K63N K63N
64	13.7
65	14.2
66	14.7