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 |
|