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 |