A770T Summary
SCN5A A770T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A770T is not present in gnomAD. A770T has been functionally characterized in 0 papers. Other variants at the same resdue are A770D .A770G .A770P .A770S .A770T .A770V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
A770T 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 |
0.932 |
A770T 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 |
| 710 |
5.5 |
|
| 711 |
5.9 |
|
| 712 |
9.6 |
|
| 713 |
9.1 |
|
| 714 |
7.4 |
V714A |
| 715 |
10 |
|
| 716 |
12.8 |
|
| 719 |
12.6 |
|
| 720 |
13.9 |
|
| 761 |
14.3 |
|
| 762 |
11.8 |
|
| 763 |
10.7 |
E763K |
| 764 |
10.2 |
M764K |
| 765 |
8.9 |
|
| 766 |
7.3 |
|
| 767 |
6.3 |
|
| 768 |
6.4 |
|
| 769 |
4.5 |
|
| 771 |
3.8 |
|
| 772 |
6.6 |
D772N |
| 773 |
8.8 |
|
| 774 |
11.8 |
Y774C |
| 775 |
9.5 |
|
| 776 |
8.4 |
|
| 777 |
11.9 |
|
| 778 |
13.3 |
|
| 779 |
13.7 |
Q779K |
| 782 |
11.5 |
|
| 785 |
14.6 |
D785N |
| 786 |
14.6 |
|