C1384R Summary
SCN5A C1384R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1384R is not present in gnomAD. C1384R has been functionally characterized in 0 papers. Other variants at the same resdue are C1384F .C1384G .C1384R .C1384S .C1384S .C1384W .C1384Y .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
C1384R 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 |
0.948 |
C1384R has 22 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 |
| 1362 |
14.9 |
|
| 1363 |
11.7 |
|
| 1365 |
14.8 |
|
| 1379 |
14.7 |
|
| 1380 |
11.9 |
N1380K N1380K p.N1380del |
| 1381 |
8.3 |
|
| 1382 |
7.2 |
S1382I |
| 1383 |
4.7 |
|
| 1385 |
4.4 |
|
| 1386 |
6 |
|
| 1387 |
5.5 |
|
| 1388 |
9.9 |
|
| 1389 |
12 |
|
| 1390 |
8.8 |
|
| 1391 |
11.8 |
G1391R G1391R |
| 1395 |
14.6 |
|
| 1432 |
12.7 |
R1432S R1432S |
| 1436 |
11.3 |
|
| 1437 |
9.2 |
|
| 1438 |
12.1 |
|
| 1439 |
10.1 |
|
| 1442 |
13 |
|