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 |
|