D191Y Summary
SCN5A D191Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D191Y is not present in gnomAD. D191Y has been functionally characterized in 0 papers. Other variants at the same resdue are D191A .D191E .D191E .D191G .D191H .D191N .D191V .D191Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D191Y 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 |
0.968 |
D191Y has 35 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 |
171 |
14.7 |
|
172 |
14.2 |
|
175 |
11.4 |
|
176 |
13.3 |
|
178 |
14.7 |
|
179 |
12.2 |
R179Q |
180 |
13.8 |
|
183 |
14 |
|
184 |
11.3 |
|
185 |
10.2 |
A185T A185V |
186 |
9.5 |
|
187 |
6.8 |
T187S T187S |
188 |
6.8 |
|
189 |
7.2 |
|
190 |
6.2 |
R190G R190L R190Q R190W |
192 |
3.9 |
|
193 |
6.3 |
|
194 |
4.5 |
|
195 |
7.8 |
|
196 |
8.6 |
|
197 |
9.1 |
|
198 |
9.8 |
|
199 |
11.7 |
|
200 |
13.8 |
|
201 |
14.9 |
|
224 |
14.7 |
|
225 |
13.9 |
R225Q R225W |
227 |
13.1 |
L227P |
228 |
11.5 |
|
230 |
15 |
I230T I230V |
231 |
13.8 |
|
237 |
14.3 |
|
240 |
14.1 |
V240M |
241 |
14.9 |
|
244 |
13.4 |
|