D305E Summary
SCN5A D305E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D305E is not present in gnomAD. D305E has been functionally characterized in 0 papers. Other variants at the same resdue are D305A .D305E .D305E .D305G .D305H .D305N .D305V .D305Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D305E 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 |
0.31 |
D305E 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 |
290 |
14.7 |
|
291 |
14.2 |
N291H N291S |
292 |
13.7 |
G292S |
293 |
13.2 |
|
294 |
12.6 |
V294M |
295 |
12 |
|
296 |
11.4 |
|
297 |
10.7 |
|
298 |
10.1 |
G298D G298S |
299 |
9.3 |
L299F L299F L299M |
300 |
8.5 |
V300I |
301 |
7.6 |
|
302 |
6.6 |
|
303 |
5.4 |
|
304 |
3.8 |
|
306 |
3.8 |
L306V |
307 |
5.4 |
|
308 |
6.6 |
|
309 |
7.6 |
|
310 |
8.5 |
|
311 |
9.3 |
|
312 |
10.1 |
|
313 |
10.7 |
|
314 |
11.4 |
|
315 |
12 |
|
316 |
12.6 |
|
317 |
13.2 |
|
318 |
13.7 |
|
319 |
14.2 |
G319S |
320 |
14.7 |
T320N |