A251T Summary
SCN5A A251T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A251T is not present in gnomAD. A251T has been functionally characterized in 0 papers. Other variants at the same resdue are A251D .A251G .A251P .A251S .A251T .A251V .
This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
A251T 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 |
0.716 |
A251T has 43 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 |
242 |
14.9 |
|
243 |
14.2 |
|
244 |
12.5 |
|
245 |
11.1 |
Q245K |
246 |
9.9 |
|
247 |
7.5 |
V247L V247L |
248 |
7.6 |
|
249 |
7.6 |
|
250 |
4.8 |
|
252 |
3.9 |
|
253 |
5.4 |
|
254 |
5.3 |
|
255 |
6.4 |
|
256 |
9.3 |
|
257 |
9.4 |
|
258 |
10.6 |
|
259 |
13.7 |
|
260 |
14 |
|
261 |
14.6 |
|
404 |
12.7 |
|
405 |
15 |
|
407 |
11.4 |
|
408 |
10.6 |
|
410 |
13.5 |
|
411 |
10.2 |
V411M |
412 |
13 |
|
414 |
13.5 |
|
415 |
13.9 |
|
921 |
14.8 |
|
924 |
12 |
V924I |
925 |
14.1 |
|
928 |
13.1 |
|
929 |
13 |
|
1637 |
14.2 |
|
1639 |
14 |
G1639A |
1640 |
10.8 |
|
1641 |
14.3 |
|
1642 |
9.5 |
|
1643 |
9.1 |
|
1645 |
13.9 |
T1645M |
1646 |
11.5 |
|
1647 |
13.7 |
|
1775 |
14.6 |
|