D1551A Summary
SCN5A D1551A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1551A is not present in gnomAD. D1551A has been functionally characterized in 0 papers. Other variants at the same resdue are D1551A .D1551E .D1551E .D1551G .D1551H .D1551N .D1551V .D1551Y .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D1551A 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 |
0.863 |
D1551A has 31 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 |
269 |
12.2 |
|
270 |
12.5 |
Q270K |
272 |
14.6 |
|
273 |
7.8 |
|
274 |
9.1 |
|
275 |
11.9 |
|
276 |
14.3 |
L276Q |
277 |
10 |
|
278 |
13.3 |
|
342 |
13.8 |
|
343 |
8.1 |
|
344 |
11.4 |
|
345 |
12.3 |
|
346 |
14.2 |
E346K |
347 |
14.7 |
|
354 |
13.6 |
|
355 |
14.7 |
F355I |
356 |
9.4 |
D356N |
357 |
11.8 |
|
1547 |
12.4 |
|
1548 |
9.4 |
E1548K G1548K |
1549 |
6.6 |
|
1550 |
3.9 |
|
1552 |
6 |
|
1553 |
7.3 |
|
1554 |
9 |
|
1555 |
12.1 |
|
1556 |
10.6 |
|
1557 |
9.1 |
|
1558 |
13.3 |
|
1560 |
13 |
L1560F L1560F |