D310N Summary
SCN5A D310N was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. D310N is present in 1 out of 248076 alleles in gnomAD (minor allele frequency of 0.000403%). D310N has been functionally characterized in 0 papers. Other variants at the same resdue are D310A .D310E .D310E .D310G .D310H .D310N .D310V .D310Y .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D310N 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 |
Tolerated |
0.47 |
-1.29 |
possiblydamaging |
0.684 |
3.607 |
2.6 |
2 |
0.319 |
D310N 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 |
295 |
14.7 |
|
296 |
14.2 |
|
297 |
13.7 |
|
298 |
13.2 |
G298D G298S |
299 |
12.6 |
L299F L299F L299M |
300 |
12 |
V300I |
301 |
11.4 |
|
302 |
10.7 |
|
303 |
10.1 |
|
304 |
9.3 |
|
305 |
8.5 |
D305N |
306 |
7.6 |
L306V |
307 |
6.6 |
|
308 |
5.4 |
|
309 |
3.8 |
|
311 |
3.8 |
|
312 |
5.4 |
|
313 |
6.6 |
|
314 |
7.6 |
|
315 |
8.5 |
|
316 |
9.3 |
|
317 |
10.1 |
|
318 |
10.7 |
|
319 |
11.4 |
G319S |
320 |
12 |
T320N |
321 |
12.6 |
|
322 |
13.2 |
|
323 |
13.7 |
|
324 |
14.2 |
|
325 |
14.7 |
|