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 |
|