A944G Summary
SCN5A A944G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A944G is not present in gnomAD. A944G has been functionally characterized in 0 papers. Other variants at the same resdue are A944E .A944G .A944P .A944S .A944T .A944V .
This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
A944G 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 |
0.654 |
A944G has 44 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 |
823 |
14 |
|
824 |
11.8 |
|
825 |
14.2 |
|
826 |
13.7 |
|
827 |
8.7 |
|
828 |
10.7 |
|
829 |
13.8 |
|
830 |
11.3 |
|
831 |
8.8 |
|
832 |
13.2 |
|
833 |
14.8 |
G833R G833R |
834 |
13 |
|
835 |
14.2 |
S835A |
936 |
14.4 |
|
937 |
13.7 |
|
938 |
11.3 |
|
939 |
10.1 |
|
940 |
10.1 |
|
941 |
8.5 |
S941N |
942 |
6.8 |
|
943 |
4.2 |
|
1329 |
14.4 |
G1329S |
1330 |
13.4 |
A1330T |
1332 |
13.7 |
P1332L |
1333 |
10.5 |
|
1334 |
13.8 |
I1334V |
1336 |
12 |
|
1337 |
12.6 |
|
1340 |
14.9 |
V1340I |
1460 |
14.8 |
|
1464 |
11.6 |
|
1465 |
14.5 |
|
1466 |
13.8 |
|
1467 |
9.9 |
|
1468 |
8.9 |
|
1469 |
12.8 |
|
1470 |
11.8 |
|
1471 |
7.8 |
|
1472 |
10.3 |
p.N1472del |
1473 |
15 |
F1473C |
1474 |
12.2 |
|
1475 |
11.7 |
|
1484 |
14.8 |
|
1487 |
13.8 |
M1487L M1487L |