C182W Summary
SCN5A C182W was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C182W is not present in gnomAD. C182W has been functionally characterized in 0 papers. Other variants at the same resdue are C182F .C182G .C182R .C182S .C182S .C182W .C182Y .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
C182W 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 |
0.821 |
C182W has 25 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 |
| 112 |
10.5 |
|
| 113 |
6.2 |
|
| 114 |
8.5 |
|
| 115 |
12.5 |
|
| 116 |
14.8 |
|
| 121 |
13.9 |
R121Q R121W |
| 172 |
14.5 |
|
| 173 |
14.1 |
|
| 175 |
14.3 |
|
| 176 |
9.4 |
|
| 177 |
11.8 |
|
| 178 |
12.8 |
|
| 179 |
11.8 |
R179Q |
| 180 |
6.5 |
|
| 181 |
4.5 |
|
| 183 |
3.9 |
|
| 184 |
6.6 |
|
| 185 |
5.5 |
A185T A185V |
| 186 |
7.7 |
|
| 187 |
9 |
T187S T187S |
| 188 |
9.9 |
|
| 189 |
10.7 |
|
| 190 |
12.8 |
R190G R190L R190Q R190W |
| 194 |
14.9 |
|
| 198 |
13.6 |
|