C335F Summary
SCN5A C335F was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C335F is not present in gnomAD. C335F has been functionally characterized in 0 papers. Other variants at the same resdue are C335F .C335G .C335R .C335S .C335S .C335W .C335Y .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
C335F 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 |
0.919 |
C335F has 34 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 |
278 |
11.2 |
|
279 |
11.5 |
|
280 |
6.7 |
|
281 |
9.8 |
V281M |
282 |
11.3 |
R282C R282H |
283 |
12 |
|
284 |
14.7 |
|
323 |
11.9 |
|
324 |
10.7 |
|
325 |
10.3 |
|
326 |
5.3 |
|
327 |
6.5 |
|
328 |
8.4 |
|
329 |
10.5 |
|
330 |
12.4 |
|
331 |
12.3 |
|
332 |
9.1 |
A332T |
333 |
7.2 |
|
334 |
4.1 |
|
336 |
3.7 |
P336L |
337 |
7.7 |
|
338 |
7.7 |
|
339 |
6.5 |
|
340 |
9 |
R340Q R340W |
341 |
7.6 |
C341Y |
342 |
11 |
|
382 |
14.7 |
|
383 |
9.7 |
|
384 |
11 |
|
385 |
13.2 |
A385T |
386 |
14.2 |
G386E G386R G386R |
1689 |
12.6 |
|
1690 |
11.8 |
D1690N |
1691 |
12.1 |
|