D1550E Summary
SCN5A D1550E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1550E is not present in gnomAD. D1550E has been functionally characterized in 0 papers. Other variants at the same resdue are D1550A .D1550E .D1550E .D1550G .D1550H .D1550N .D1550V .D1550Y .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D1550E 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 |
0.657 |
D1550E 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 |
| 265 |
14.9 |
|
| 266 |
14 |
|
| 268 |
12.2 |
|
| 269 |
9.2 |
|
| 270 |
10.5 |
Q270K |
| 271 |
12.8 |
|
| 272 |
11.4 |
|
| 273 |
5.1 |
|
| 274 |
6.1 |
|
| 275 |
9.3 |
|
| 276 |
10.9 |
L276Q |
| 277 |
7.2 |
|
| 278 |
11.4 |
|
| 279 |
13.9 |
|
| 342 |
13.4 |
|
| 343 |
7.2 |
|
| 344 |
10.2 |
|
| 345 |
10.7 |
|
| 346 |
11.9 |
E346K |
| 347 |
11.5 |
|
| 348 |
14.5 |
|
| 351 |
13.2 |
G351S G351V |
| 352 |
14.6 |
|
| 353 |
13.6 |
T353I |
| 354 |
9.7 |
|
| 355 |
11 |
F355I |
| 356 |
5.7 |
D356N |
| 357 |
8.6 |
|
| 358 |
13 |
|
| 359 |
13.3 |
|
| 360 |
12.7 |
|
| 361 |
12.7 |
|
| 384 |
14.9 |
|
| 1545 |
14 |
|
| 1546 |
14.2 |
|
| 1547 |
11.6 |
|
| 1548 |
8.5 |
E1548K G1548K |
| 1549 |
5 |
|
| 1551 |
3.9 |
D1551N |
| 1552 |
7.2 |
|
| 1553 |
10.1 |
|
| 1554 |
12.3 |
|
| 1555 |
14.9 |
|
| 1556 |
12.3 |
|
| 1557 |
11.5 |
|
| 1560 |
14 |
L1560F L1560F |
| 1623 |
14.4 |
R1623L R1623Q |