C373G Summary
SCN5A C373G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C373G is not present in gnomAD. C373G has been functionally characterized in 0 papers. Other variants at the same resdue are C373F .C373G .C373R .C373S .C373S .C373W .C373Y .
This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
C373G 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 |
0.671 |
C373G has 66 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 |
| 348 |
13.4 |
|
| 349 |
11 |
D349N |
| 350 |
13 |
|
| 353 |
11.5 |
T353I |
| 354 |
15 |
|
| 363 |
12.1 |
|
| 364 |
10.5 |
|
| 365 |
12.9 |
|
| 366 |
11.9 |
|
| 367 |
6.1 |
R367C R367H |
| 368 |
9.3 |
|
| 369 |
12.9 |
M369K |
| 370 |
9 |
T370M |
| 371 |
8.3 |
Q371E |
| 372 |
3.8 |
|
| 374 |
6.6 |
|
| 375 |
5.9 |
|
| 376 |
6.5 |
R376H |
| 377 |
7.7 |
|
| 378 |
11 |
|
| 379 |
10.6 |
|
| 380 |
11.2 |
|
| 381 |
13.7 |
|
| 393 |
12.7 |
|
| 396 |
14.4 |
|
| 397 |
12.6 |
I397V |
| 401 |
13.9 |
|
| 879 |
14.7 |
W879R W879R |
| 893 |
9.9 |
R893C R893H |
| 894 |
11.8 |
|
| 895 |
14.9 |
|
| 896 |
12.3 |
|
| 897 |
8.5 |
|
| 898 |
6.6 |
|
| 899 |
8.1 |
|
| 900 |
6.7 |
|
| 901 |
8.1 |
E901K |
| 902 |
11.2 |
|
| 903 |
11.6 |
|
| 904 |
10.7 |
|
| 905 |
13.7 |
|
| 919 |
14.3 |
|
| 920 |
15 |
|
| 923 |
12.8 |
|
| 927 |
14.9 |
N927S |
| 1414 |
14.3 |
|
| 1417 |
12.7 |
|
| 1418 |
11.1 |
|
| 1419 |
8.1 |
|
| 1420 |
11 |
G1420R G1420V |
| 1421 |
11.5 |
|
| 1422 |
11.6 |
|
| 1423 |
13.6 |
|
| 1687 |
13.8 |
|
| 1705 |
14.8 |
|
| 1706 |
10.2 |
|
| 1707 |
13.4 |
|
| 1708 |
14.2 |
|
| 1709 |
10.4 |
T1709M |
| 1710 |
10 |
S1710L |
| 1711 |
7.7 |
|
| 1712 |
9 |
G1712S |
| 1713 |
12.3 |
|
| 1714 |
12.9 |
|
| 1715 |
12.8 |
|
| 1716 |
13.9 |
|