D211G Summary
SCN5A D211G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D211G is not present in gnomAD. D211G has been functionally characterized in 0 papers. Other variants at the same resdue are D211A .D211E .D211E .D211G .D211H .D211N .D211V .D211Y .
This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
D211G 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 |
0.808 |
D211G has 18 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 |
| 158 |
15 |
|
| 202 |
14.7 |
|
| 203 |
13.1 |
|
| 204 |
12.4 |
|
| 205 |
12.1 |
|
| 206 |
8.4 |
|
| 207 |
8.2 |
|
| 208 |
10.3 |
|
| 209 |
6.7 |
|
| 210 |
5.2 |
|
| 212 |
4.7 |
|
| 213 |
5.4 |
|
| 214 |
6.3 |
|
| 215 |
9.2 |
|
| 216 |
10.7 |
S216L |
| 217 |
12 |
|
| 218 |
9.6 |
|
| 219 |
12.7 |
R219C |