A149V Summary
SCN5A A149V was found in 1 paper (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 1 had other disease. A149V is not present in gnomAD. A149V has been functionally characterized in 0 papers. Other variants at the same resdue are A149D .A149G .A149P .A149S .A149T .A149V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A149V Reported Clinical Data
PMID |
Year |
Unaffected |
BrS |
LQT3 |
Other |
Other disease |
24631775 | 2014 | 0 | 0 | 0 | 1 | SIDS |
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.
A149V 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 |
0.032 |
-1.04 |
probablydamaging |
0.993 |
1.03 |
-1.75 |
-2 |
0.912 |
A149V has 48 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 |
14.6 |
|
141 |
13.4 |
I141N I141V |
142 |
11.9 |
|
143 |
10.3 |
|
144 |
8.7 |
|
145 |
7.3 |
|
146 |
5.4 |
V146A V146M |
147 |
6.5 |
|
148 |
5.2 |
|
150 |
4.1 |
|
151 |
5.5 |
|
152 |
5.9 |
D152N |
153 |
8.1 |
|
154 |
10 |
|
155 |
10.8 |
|
156 |
11.3 |
|
157 |
12 |
|
160 |
13 |
|
161 |
12.7 |
E161K |
164 |
13.6 |
|
219 |
13 |
R219C |
220 |
14.9 |
T220I |
222 |
12.5 |
R222Q |
223 |
11.6 |
V223L |
226 |
13.4 |
A226V |
847 |
14.5 |
|
848 |
14.4 |
I848F |
850 |
14 |
V850M |
851 |
9 |
F851L F851L F851L |
852 |
12.5 |
|
854 |
10.4 |
|
855 |
8.5 |
|
856 |
13 |
|
857 |
13 |
G857D |
858 |
8.9 |
M858L M858L |
859 |
12.2 |
|
862 |
14.6 |
|
881 |
13.7 |
|
882 |
12.5 |
|
883 |
9 |
|
884 |
6.2 |
|
885 |
8.8 |
|
886 |
12.6 |
H886P H886Q H886Q |
887 |
11.1 |
|
888 |
11.8 |
|
889 |
14.5 |
|
1444 |
14.1 |
|
1447 |
14.2 |
|