A854T Summary
SCN5A A854T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A854T is not present in gnomAD. A854T has been functionally characterized in 0 papers. Other variants at the same resdue are A854D .A854G .A854P .A854S .A854T .A854V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A854T 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 |
0.958 |
A854T has 67 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 |
| 144 |
13.8 |
|
| 145 |
11.3 |
|
| 146 |
13.6 |
V146A V146M |
| 147 |
14.8 |
|
| 148 |
9.7 |
|
| 149 |
10.4 |
|
| 150 |
14.5 |
|
| 151 |
12.4 |
|
| 152 |
12.3 |
D152N |
| 217 |
15 |
|
| 219 |
13.4 |
R219C |
| 220 |
10.7 |
T220I |
| 221 |
12.4 |
|
| 222 |
13.3 |
R222Q |
| 223 |
8.8 |
V223L |
| 224 |
11.7 |
|
| 226 |
11.9 |
A226V |
| 227 |
13.3 |
L227P |
| 845 |
14.3 |
|
| 846 |
12.1 |
|
| 847 |
10.1 |
|
| 848 |
10.5 |
I848F |
| 849 |
9.5 |
|
| 850 |
6.3 |
V850M |
| 851 |
5.8 |
F851L F851L F851L |
| 852 |
6.3 |
|
| 853 |
5.7 |
|
| 855 |
3.9 |
|
| 856 |
5.6 |
|
| 857 |
5.3 |
G857D |
| 858 |
6 |
M858L M858L |
| 859 |
9.6 |
|
| 860 |
9.9 |
|
| 861 |
9.8 |
|
| 862 |
10.8 |
|
| 865 |
13.4 |
|
| 879 |
13.6 |
W879R W879R |
| 880 |
11.7 |
|
| 881 |
7.6 |
|
| 882 |
11.9 |
|
| 883 |
9.7 |
|
| 884 |
6.1 |
|
| 885 |
10 |
|
| 886 |
10.1 |
H886P H886Q H886Q |
| 887 |
4.8 |
|
| 888 |
6.7 |
|
| 889 |
9.4 |
|
| 890 |
7.8 |
I890T |
| 891 |
6 |
|
| 892 |
10.6 |
F892I |
| 893 |
13.2 |
R893C R893H |
| 894 |
10.8 |
|
| 895 |
11.9 |
|
| 896 |
14.8 |
|
| 902 |
12.7 |
|
| 906 |
13.4 |
|
| 914 |
13.8 |
|
| 915 |
13 |
|
| 918 |
10.3 |
|
| 919 |
10.6 |
|
| 921 |
12.6 |
|
| 922 |
10.1 |
|
| 923 |
14.3 |
|
| 925 |
13.3 |
|
| 926 |
13.2 |
|
| 1447 |
13.3 |
|
| 1451 |
14.8 |
|