A838P Summary
SCN5A A838P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A838P is not present in gnomAD. A838P has been functionally characterized in 0 papers. Other variants at the same resdue are A838E .A838G .A838P .A838S .A838T .A838V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A838P 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 |
0.959 |
A838P has 55 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 |
| 230 |
13.2 |
I230T I230V |
| 231 |
14.9 |
|
| 232 |
14 |
V232I |
| 233 |
9.6 |
|
| 234 |
8.5 |
P234S |
| 235 |
7.9 |
|
| 236 |
10.2 |
|
| 237 |
12.5 |
|
| 238 |
7.9 |
|
| 239 |
7.9 |
I239V I239V |
| 240 |
12.2 |
V240M |
| 241 |
13.5 |
|
| 242 |
12.4 |
|
| 243 |
13.4 |
|
| 413 |
15 |
A413T |
| 416 |
9.7 |
Y416C |
| 417 |
13.5 |
|
| 419 |
12.5 |
|
| 420 |
10.3 |
|
| 423 |
12.8 |
|
| 829 |
14.6 |
|
| 830 |
14.5 |
|
| 831 |
11.2 |
|
| 832 |
10 |
|
| 833 |
9.3 |
G833R G833R |
| 834 |
9.1 |
|
| 835 |
5.1 |
S835A |
| 836 |
6.2 |
|
| 837 |
3.4 |
|
| 839 |
4.5 |
L839P |
| 840 |
5.1 |
|
| 841 |
4.7 |
N841K N841K |
| 842 |
6.4 |
|
| 843 |
8.3 |
|
| 844 |
9.5 |
|
| 845 |
10.6 |
|
| 846 |
12.5 |
|
| 847 |
14.2 |
|
| 848 |
14.9 |
I848F |
| 930 |
12.6 |
|
| 931 |
14.2 |
|
| 933 |
10.3 |
|
| 934 |
9.4 |
|
| 935 |
13.3 |
|
| 936 |
10.8 |
|
| 937 |
6.7 |
|
| 938 |
10.3 |
|
| 939 |
13.1 |
|
| 940 |
10 |
|
| 941 |
9.1 |
S941N |
| 942 |
11.9 |
|
| 1455 |
14 |
|
| 1456 |
14.3 |
|
| 1459 |
14.6 |
|
| 1460 |
12.5 |
|