A447T Summary
SCN5A A447T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A447T is not present in gnomAD. A447T has been functionally characterized in 0 papers. Other variants at the same resdue are A447D .A447G .A447P .A447S .A447T .A447V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A447T 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 |
0.529 |
A447T 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 |
432 |
14.7 |
|
433 |
14.2 |
R433C |
434 |
13.7 |
|
435 |
13.2 |
|
436 |
12.6 |
|
437 |
12 |
|
438 |
11.4 |
|
439 |
10.7 |
|
440 |
10.1 |
|
441 |
9.3 |
|
442 |
8.5 |
|
443 |
7.6 |
|
444 |
6.6 |
|
445 |
5.4 |
H445D |
446 |
3.8 |
E446K |
448 |
3.8 |
|
449 |
5.4 |
T449A |
450 |
6.6 |
|
451 |
7.6 |
|
452 |
8.5 |
|
453 |
9.3 |
V453M |
454 |
10.1 |
|
455 |
10.7 |
|
456 |
11.4 |
V456M |
457 |
12 |
|
458 |
12.6 |
R458C R458H |
459 |
13.2 |
|
460 |
13.7 |
|
461 |
14.2 |
L461V |
462 |
14.7 |
E462K |