C139S Summary
SCN5A C139S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C139S is not present in gnomAD. C139S has been functionally characterized in 0 papers. Other variants at the same resdue are C139F .C139G .C139R .C139S .C139S .C139W .C139Y .p.I137_C139dup .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
C139S 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 |
0.791 |
C139S has 36 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 |
130 |
13.9 |
|
131 |
11.7 |
|
132 |
9.7 |
|
133 |
10.3 |
|
134 |
9.4 |
|
135 |
6.6 |
|
136 |
5.4 |
L136P |
137 |
6.3 |
I137V |
138 |
5.3 |
|
140 |
4.8 |
|
141 |
6.4 |
I141N I141V |
142 |
5.3 |
|
143 |
6.4 |
|
144 |
9.8 |
|
145 |
10.1 |
|
146 |
10.9 |
V146A V146M |
147 |
13.1 |
|
148 |
14.2 |
|
160 |
14.1 |
|
163 |
13.3 |
|
164 |
10.4 |
|
165 |
14.8 |
|
166 |
14.7 |
A166T |
167 |
10.8 |
|
168 |
11.2 |
|
170 |
15 |
|
171 |
12.6 |
|
225 |
11.4 |
R225Q R225W |
226 |
11.9 |
A226V |
227 |
14.9 |
L227P |
228 |
11.6 |
|
229 |
10 |
|
230 |
14.2 |
I230T I230V |
231 |
12.4 |
|
232 |
10.4 |
V232I |
233 |
14.4 |
|