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 |
|