A185V Summary
SCN5A A185V was found in 1 paper (see below) with a total of 5 carriers: 1 had BrS1, 0 had LQT3, and 0 had other disease. A185V is present in 4 out of 246872 alleles in gnomAD (minor allele frequency of 0.00162%). A185V has been functionally characterized in 0 papers. Other variants at the same resdue are A185E .A185G .A185P .A185S .A185T .A185V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A185V 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.
A185V 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 |
0.049 |
-1.71 |
possiblydamaging |
0.873 |
2.454 |
-3.32 |
-2 |
0.603 |
A185V has 33 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 |
12.5 |
|
113 |
9.8 |
|
114 |
10.5 |
|
121 |
14.2 |
R121Q R121W |
171 |
14.3 |
|
172 |
10.9 |
|
173 |
12.1 |
|
174 |
13 |
|
175 |
10.3 |
|
176 |
6.9 |
|
177 |
11.1 |
|
178 |
11.1 |
|
179 |
9.7 |
R179Q |
180 |
6.3 |
|
181 |
7.4 |
|
182 |
5.5 |
|
183 |
6.4 |
|
184 |
5.5 |
|
186 |
5.4 |
|
187 |
5.2 |
T187S T187S |
188 |
4.8 |
|
189 |
5.7 |
|
190 |
9.3 |
R190G R190L R190Q R190W |
191 |
10.2 |
|
192 |
12.6 |
|
194 |
9.5 |
|
195 |
11.2 |
|
196 |
13.9 |
|
197 |
12.3 |
|
198 |
8.6 |
|
199 |
12.5 |
|
201 |
14.3 |
|
202 |
13.3 |
|