D1610A Summary
SCN5A D1610A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1610A is not present in gnomAD. D1610A has been functionally characterized in 0 papers. Other variants at the same resdue are D1610A .D1610E .D1610E .D1610G .D1610H .D1610N .D1610V .D1610Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
D1610A 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 |
0.806 |
D1610A has 20 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 |
| 1601 |
12.4 |
L1601H |
| 1602 |
12.5 |
|
| 1603 |
12.2 |
|
| 1604 |
8.5 |
V1604M |
| 1605 |
7.2 |
G1605C |
| 1606 |
9.8 |
T1606I |
| 1607 |
10.4 |
|
| 1608 |
6.9 |
|
| 1609 |
3.7 |
S1609L |
| 1611 |
4.2 |
|
| 1612 |
6 |
|
| 1613 |
4.9 |
|
| 1614 |
9.6 |
|
| 1615 |
10.1 |
|
| 1616 |
6.9 |
|
| 1617 |
9 |
p.F1617del |
| 1618 |
10.5 |
|
| 1619 |
11.3 |
|
| 1620 |
14.9 |
T1620K T1620M |
| 1622 |
13.2 |
|