D872Y Summary
SCN5A D872Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D872Y is not present in gnomAD. D872Y has been functionally characterized in 0 papers. Other variants at the same resdue are D872A .D872E .D872E .D872G .D872H .D872N .D872V .D872Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D872Y 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 |
0.596 |
D872Y has 27 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 |
| 321 |
12.2 |
|
| 322 |
9.6 |
|
| 323 |
14.1 |
|
| 346 |
13.7 |
E346K |
| 347 |
14.5 |
|
| 348 |
13.5 |
|
| 349 |
10.8 |
D349N |
| 350 |
9.4 |
|
| 351 |
13.3 |
G351S G351V |
| 352 |
14.7 |
|
| 865 |
14 |
|
| 868 |
11.9 |
|
| 869 |
12.7 |
|
| 870 |
7.6 |
|
| 871 |
4.5 |
|
| 873 |
4.1 |
|
| 874 |
6.1 |
G874D |
| 875 |
10.2 |
|
| 876 |
11.6 |
|
| 877 |
10.7 |
|
| 878 |
13.1 |
R878C R878H |
| 901 |
13.2 |
E901K |
| 904 |
13.7 |
|
| 905 |
10.4 |
|
| 906 |
15 |
|
| 908 |
9.6 |
|
| 909 |
12.4 |
|