A242T Summary
SCN5A A242T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A242T is not present in gnomAD. A242T has been functionally characterized in 0 papers. Other variants at the same resdue are A242D .A242G .A242P .A242S .A242T .A242V .
This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.
A242T 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 |
0.935 |
A242T 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 |
| 193 |
14 |
|
| 230 |
12.5 |
I230T I230V |
| 231 |
14.9 |
|
| 233 |
13.6 |
|
| 235 |
11.4 |
|
| 236 |
10 |
|
| 237 |
9 |
|
| 238 |
6.7 |
|
| 239 |
5.3 |
I239V I239V |
| 240 |
5.7 |
V240M |
| 241 |
3.3 |
|
| 243 |
4.1 |
|
| 244 |
5.6 |
|
| 245 |
5.6 |
Q245K |
| 246 |
5.4 |
|
| 247 |
8.5 |
V247L V247L |
| 248 |
9.6 |
|
| 249 |
9.3 |
|
| 250 |
11.7 |
|
| 251 |
14.9 |
|
| 408 |
13.1 |
|
| 409 |
12.8 |
L409V |
| 410 |
12.7 |
|
| 411 |
10.1 |
V411M |
| 412 |
7.6 |
|
| 413 |
9.3 |
A413T |
| 414 |
9.9 |
|
| 415 |
5.8 |
|
| 416 |
6.4 |
Y416C |
| 417 |
10.3 |
|
| 418 |
8.5 |
|
| 419 |
6.4 |
|
| 420 |
9.4 |
|
| 421 |
12.8 |
|
| 422 |
11.3 |
|
| 423 |
11.6 |
|
| 838 |
12.4 |
|
| 839 |
14.5 |
L839P |
| 840 |
14.6 |
|
| 841 |
12 |
N841K N841K |
| 842 |
10.2 |
|
| 843 |
14.3 |
|
| 844 |
14.9 |
|
| 845 |
11 |
|
| 846 |
13.5 |
|
| 849 |
13.6 |
|
| 924 |
14 |
V924I |
| 925 |
12 |
|
| 926 |
12.9 |
|
| 927 |
14.9 |
N927S |
| 928 |
13.4 |
|
| 929 |
8.7 |
|
| 930 |
9.6 |
|
| 931 |
13.3 |
|
| 932 |
11.6 |
|
| 933 |
7.2 |
|
| 934 |
13 |
|
| 935 |
13.4 |
|
| 936 |
10.3 |
|
| 937 |
11.4 |
|
| 939 |
14.6 |
|
| 940 |
13.4 |
|