C280F Summary
SCN5A C280F was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C280F is not present in gnomAD. C280F has been functionally characterized in 0 papers. Other variants at the same resdue are C280F .C280G .C280R .C280S .C280S .C280W .C280Y .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
C280F 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 |
0.97 |
C280F has 47 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 |
| 274 |
14 |
|
| 275 |
13.3 |
|
| 276 |
12.6 |
L276Q |
| 277 |
12.2 |
|
| 278 |
8.3 |
|
| 279 |
5.4 |
|
| 281 |
5 |
V281M |
| 282 |
8.5 |
R282C R282H |
| 283 |
10.3 |
|
| 284 |
13.3 |
|
| 285 |
14.4 |
|
| 317 |
14.6 |
|
| 319 |
11.3 |
G319S |
| 320 |
9.7 |
T320N |
| 321 |
9.4 |
|
| 322 |
10.2 |
|
| 323 |
5.9 |
|
| 324 |
6.9 |
|
| 325 |
7 |
|
| 326 |
4.9 |
|
| 327 |
7.6 |
|
| 328 |
11 |
|
| 329 |
13.7 |
|
| 332 |
12.1 |
A332T |
| 333 |
10.5 |
|
| 334 |
8.7 |
|
| 335 |
6.7 |
C335R |
| 336 |
7 |
P336L |
| 337 |
11.8 |
|
| 338 |
9.1 |
|
| 339 |
6 |
|
| 340 |
8.2 |
R340Q R340W |
| 341 |
6.3 |
C341Y |
| 342 |
7.2 |
|
| 343 |
11.8 |
|
| 344 |
9.7 |
|
| 345 |
11.6 |
|
| 346 |
13.8 |
E346K |
| 347 |
13.5 |
|
| 348 |
12.4 |
|
| 380 |
12.5 |
|
| 381 |
14.5 |
|
| 383 |
9.5 |
|
| 384 |
10.1 |
|
| 385 |
13.6 |
A385T |
| 1689 |
13.6 |
|
| 1691 |
14.5 |
|