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 |
|