C260W Summary
SCN5A C260W was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C260W is not present in gnomAD. C260W has been functionally characterized in 0 papers. Other variants at the same resdue are C260F .C260G .C260R .C260S .C260S .C260W .C260Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
C260W 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 |
0.918 |
C260W has 62 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 |
250 |
14.2 |
|
251 |
14 |
|
252 |
13.1 |
|
253 |
10.1 |
|
254 |
10 |
|
255 |
9 |
|
256 |
5.6 |
|
257 |
5.3 |
|
258 |
6.2 |
|
259 |
4.3 |
|
261 |
4.8 |
|
262 |
6.1 |
|
263 |
5.7 |
V263I |
264 |
6.6 |
|
265 |
9.3 |
|
266 |
11.1 |
|
267 |
10.9 |
|
268 |
13.4 |
|
358 |
12.8 |
|
361 |
13.2 |
|
362 |
10.3 |
|
363 |
14.6 |
|
364 |
13.7 |
|
365 |
9.3 |
|
366 |
10.9 |
|
368 |
12.1 |
|
369 |
8.5 |
M369K |
370 |
13.5 |
T370M |
392 |
12.9 |
|
395 |
10.9 |
|
396 |
9.2 |
|
397 |
12.2 |
I397V |
398 |
13.5 |
|
399 |
9.4 |
|
400 |
7.6 |
G400E G400R G400R |
401 |
10.5 |
|
402 |
13.5 |
F402L F402L F402L |
403 |
10.3 |
|
404 |
7.9 |
|
405 |
12.6 |
|
406 |
14.2 |
N406K N406K N406S |
407 |
11.6 |
|
408 |
13.4 |
|
1539 |
13.6 |
C1539Y |
1542 |
11.7 |
|
1546 |
13.4 |
|
1624 |
14.9 |
V1624I |
1627 |
11.9 |
|
1628 |
12 |
|
1630 |
9.8 |
|
1631 |
10.1 |
G1631D |
1632 |
14.5 |
R1632C R1632H |
1633 |
10.6 |
|
1634 |
10.4 |
|
1636 |
15 |
|
1637 |
13.4 |
|
1643 |
11.8 |
|
1646 |
12.7 |
|
1647 |
11 |
|
1650 |
12.1 |
|
1651 |
14.5 |
|
1654 |
15 |
|