A110S Summary

SCN5A A110S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A110S is not present in gnomAD. A110S has been functionally characterized in 0 papers. Other variants at the same resdue are A110D .A110G .A110P .A110S .A110T .A110V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A110S 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	0.813

A110S 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
95	14.7	V95I V95L V95L
96	14.2
97	13.7
98	13.2
99	12.6
100	12
101	11.4
102	10.7
103	10.1
104	9.3	R104Q R104W
105	8.5
106	7.6
107	6.6
108	5.4
109	3.8	N109K N109K
111	3.8
112	5.4
113	6.6
114	7.6
115	8.5
116	9.3
117	10.1
118	10.7
119	11.4	P119L P119S
120	12
121	12.6	R121Q R121W
122	13.2
123	13.7	A123V
124	14.2
125	14.7	V125L V125L