A123T Summary
SCN5A A123T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A123T is not present in gnomAD. A123T has been functionally characterized in 0 papers. Other variants at the same resdue are A123E .A123G .A123P .A123S .A123T .A123V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A123T 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 |
0.374 |
A123T has 31 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 |
| 114 |
12.8 |
|
| 115 |
12.6 |
|
| 116 |
11.5 |
|
| 117 |
12.8 |
|
| 118 |
9.9 |
|
| 119 |
6.8 |
P119L P119S |
| 120 |
5.5 |
|
| 121 |
7 |
R121Q R121W |
| 122 |
6.3 |
|
| 124 |
3.6 |
|
| 125 |
5.4 |
V125L V125L |
| 126 |
4.5 |
|
| 127 |
5.8 |
|
| 128 |
9.1 |
|
| 129 |
9.6 |
|
| 130 |
10.8 |
|
| 131 |
14.5 |
|
| 132 |
14.4 |
|
| 133 |
11.7 |
|
| 134 |
14.5 |
|
| 170 |
12.2 |
|
| 171 |
14.4 |
|
| 172 |
14.9 |
|
| 173 |
12 |
|
| 174 |
9.1 |
|
| 175 |
12.8 |
|
| 176 |
13.3 |
|
| 177 |
9.2 |
|
| 178 |
8.7 |
|
| 179 |
11.8 |
R179Q |
| 180 |
14 |
|