A204V Summary
SCN5A A204V was found in 1 paper (see below) with a total of 1 carrier: 1 had BrS1, 0 had LQT3, and 0 had other disease. A204V is not present in gnomAD. A204V has been functionally characterized in 0 papers. Other variants at the same resdue are A204E .A204G .A204P .A204S .A204T .A204V .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A204V Reported Clinical Data
PMID |
Year |
Unaffected |
BrS |
LQT3 |
Other |
Other disease |
20129283 | 2010 | 0 | 1 | 0 | 0 | |
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.
A204V 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 |
Damaging |
0 |
-3.87 |
probablydamaging |
0.998 |
0.475 |
-4.98 |
-2 |
0.968 |
A204V has 50 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 |
140 |
14.3 |
|
141 |
13.8 |
I141N I141V |
144 |
12 |
|
147 |
13.9 |
|
148 |
13.2 |
|
151 |
14.8 |
|
158 |
12.3 |
|
160 |
13 |
|
161 |
8.8 |
E161K |
162 |
9.5 |
|
163 |
12.1 |
|
164 |
10.5 |
|
165 |
6.7 |
|
166 |
10.5 |
A166T |
167 |
12.1 |
|
168 |
9 |
|
169 |
9.8 |
|
171 |
13.2 |
|
172 |
12.5 |
|
195 |
13.6 |
|
196 |
12.5 |
|
197 |
11.9 |
|
198 |
11.4 |
|
199 |
8.9 |
|
200 |
6.6 |
|
201 |
5.5 |
|
202 |
6.2 |
|
203 |
5.2 |
|
205 |
5.8 |
|
206 |
5.4 |
|
207 |
4.7 |
|
208 |
5.7 |
|
209 |
8.4 |
|
210 |
11.3 |
|
211 |
12.4 |
|
212 |
12.1 |
|
214 |
14.3 |
|
215 |
13.2 |
|
216 |
11.8 |
S216L |
217 |
10.1 |
|
218 |
6.5 |
|
219 |
8.7 |
R219C |
220 |
10.9 |
T220I |
221 |
10.2 |
|
222 |
6.1 |
R222Q |
223 |
11.4 |
V223L |
224 |
11.7 |
|
225 |
10.6 |
R225Q R225W |
226 |
14.5 |
A226V |
859 |
13.5 |
|