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 |
|