A847S Summary
SCN5A A847S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A847S is not present in gnomAD. A847S has been functionally characterized in 0 papers. Other variants at the same resdue are A847D .A847G .A847P .A847S .A847T .A847V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
A847S 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 |
0.927 |
A847S 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 |
141 |
14.7 |
I141N I141V |
142 |
12.9 |
|
145 |
11.5 |
|
146 |
14.2 |
V146A V146M |
148 |
14.2 |
|
149 |
14.5 |
|
223 |
12.8 |
V223L |
224 |
13.9 |
|
226 |
10.4 |
A226V |
227 |
11 |
L227P |
228 |
14.5 |
|
229 |
10 |
|
230 |
9.8 |
I230T I230V |
231 |
14.1 |
|
232 |
13.5 |
V232I |
233 |
11.2 |
|
236 |
14.3 |
|
239 |
12.7 |
I239V I239V |
240 |
13.7 |
V240M |
243 |
13.4 |
|
837 |
14.7 |
|
838 |
14.2 |
|
839 |
12.1 |
L839P |
840 |
10 |
|
841 |
11 |
N841K N841K |
842 |
9.1 |
|
843 |
6.5 |
|
844 |
5.9 |
|
845 |
5.8 |
|
846 |
4.2 |
|
848 |
4.2 |
I848F |
849 |
5.7 |
|
850 |
4.9 |
V850M |
851 |
6.7 |
F851L F851L F851L |
852 |
8.4 |
|
853 |
9.4 |
|
854 |
10.1 |
|
855 |
11.8 |
|
856 |
13.9 |
|
884 |
11.5 |
|
885 |
13.6 |
|
887 |
12.7 |
|
888 |
8.7 |
|
889 |
12.8 |
|
890 |
14 |
I890T |
891 |
10.3 |
|
892 |
9.8 |
F892I |
894 |
13.5 |
|
895 |
10.1 |
|
896 |
13.2 |
|
922 |
12.2 |
|
925 |
11.9 |
|
926 |
10.3 |
|
927 |
13.6 |
N927S |
929 |
13.7 |
|
930 |
10.1 |
|
931 |
11.8 |
|
933 |
13.7 |
|
934 |
13.1 |
|
1447 |
13.4 |
|
1448 |
12.8 |
I1448L |
1451 |
10.9 |
|
1452 |
13.1 |
|
1454 |
13.5 |
|
1455 |
10.9 |
|
1456 |
14.6 |
|
1459 |
12.1 |
|