A226S Summary
SCN5A A226S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A226S is not present in gnomAD. A226S has been functionally characterized in 0 papers. Other variants at the same resdue are A226D .A226G .A226P .A226S .A226T .A226V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A226S 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 |
0.896 |
A226S has 62 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 |
| 134 |
14.8 |
|
| 137 |
11.6 |
I137V |
| 138 |
8.7 |
|
| 139 |
11.9 |
|
| 140 |
10.7 |
|
| 141 |
6.2 |
I141N I141V |
| 142 |
8 |
|
| 143 |
11.1 |
|
| 144 |
8.4 |
|
| 145 |
6.9 |
|
| 146 |
11.6 |
V146A V146M |
| 147 |
13.1 |
|
| 148 |
9.6 |
|
| 149 |
13.4 |
|
| 164 |
12.9 |
|
| 168 |
11.7 |
|
| 171 |
14.4 |
|
| 192 |
14.2 |
|
| 193 |
10.6 |
|
| 194 |
13.8 |
|
| 195 |
14 |
|
| 196 |
9.5 |
|
| 197 |
10.3 |
|
| 198 |
14.6 |
|
| 199 |
13.2 |
|
| 200 |
10.2 |
|
| 201 |
12.9 |
|
| 203 |
14.2 |
|
| 204 |
14.5 |
|
| 219 |
14.9 |
R219C |
| 220 |
13.1 |
T220I |
| 221 |
11.7 |
|
| 222 |
10.3 |
R222Q |
| 223 |
6 |
V223L |
| 224 |
6.2 |
|
| 225 |
5.6 |
R225Q R225W |
| 227 |
4.2 |
L227P |
| 228 |
6.2 |
|
| 229 |
5 |
|
| 230 |
7.6 |
I230T I230V |
| 231 |
9.8 |
|
| 232 |
10.8 |
V232I |
| 233 |
11.9 |
|
| 236 |
13.9 |
|
| 240 |
13.6 |
V240M |
| 844 |
11.7 |
|
| 845 |
10.5 |
|
| 846 |
13 |
|
| 847 |
10.4 |
|
| 848 |
6.6 |
I848F |
| 849 |
9.4 |
|
| 850 |
11.2 |
V850M |
| 851 |
7.4 |
F851L F851L F851L |
| 852 |
6.4 |
|
| 853 |
11.3 |
|
| 854 |
11.9 |
|
| 855 |
10.1 |
|
| 856 |
11.6 |
|
| 857 |
14.8 |
G857D |
| 858 |
14.8 |
M858L M858L |
| 884 |
14.1 |
|
| 925 |
15 |
|