A551S Summary
SCN5A A551S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A551S is not present in gnomAD. A551S has been functionally characterized in 0 papers. Other variants at the same resdue are A551E .A551G .A551P .A551S .A551T .A551V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A551S 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 |
0.358 |
A551S has 30 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 |
| 536 |
14.7 |
D536H |
| 537 |
14.2 |
|
| 538 |
13.7 |
|
| 539 |
13.2 |
|
| 540 |
12.6 |
|
| 541 |
12 |
|
| 542 |
11.4 |
|
| 543 |
10.7 |
|
| 544 |
10.1 |
|
| 545 |
9.3 |
|
| 546 |
8.5 |
|
| 547 |
7.6 |
|
| 548 |
6.6 |
|
| 549 |
5.4 |
|
| 550 |
3.8 |
|
| 552 |
3.8 |
G552R G552R G552W |
| 553 |
5.4 |
|
| 554 |
6.6 |
|
| 555 |
7.6 |
E555K |
| 556 |
8.5 |
|
| 557 |
9.3 |
H557Y |
| 558 |
10.1 |
H558R |
| 559 |
10.7 |
T559I |
| 560 |
11.4 |
|
| 561 |
12 |
|
| 562 |
12.6 |
|
| 563 |
13.2 |
|
| 564 |
13.7 |
|
| 565 |
14.2 |
|
| 566 |
14.7 |
|