E1555G Summary
SCN5A E1555G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1555G is not present in gnomAD. E1555G has been functionally characterized in 0 papers. Other variants at the same resdue are E1555A .E1555D .E1555D .E1555G .E1555K .E1555Q .E1555V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
E1555G 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 |
0.579 |
E1555G has 17 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 |
| 1544 |
15 |
|
| 1547 |
12.7 |
|
| 1548 |
12.9 |
E1548K G1548K |
| 1549 |
12.6 |
|
| 1550 |
14.9 |
|
| 1551 |
12.1 |
D1551N |
| 1552 |
8.7 |
|
| 1553 |
4.9 |
|
| 1554 |
4.5 |
|
| 1556 |
5.1 |
|
| 1557 |
7.3 |
|
| 1558 |
6.6 |
|
| 1559 |
7.7 |
I1559V |
| 1560 |
9.9 |
L1560F L1560F |
| 1561 |
11.6 |
|
| 1562 |
11 |
|
| 1563 |
13.4 |
|