A124P Summary
SCN5A A124P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A124P is not present in gnomAD. A124P has been functionally characterized in 0 papers. Other variants at the same resdue are A124D .A124G .A124P .A124S .A124T .A124V .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A124P 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 |
0.889 |
A124P has 37 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 |
114 |
11.2 |
|
115 |
12.3 |
|
116 |
11.7 |
|
117 |
13.8 |
|
118 |
10.5 |
|
119 |
9.1 |
P119L P119S |
120 |
6.7 |
|
121 |
6.2 |
R121Q R121W |
122 |
8.1 |
|
123 |
3.6 |
A123V |
125 |
4 |
V125L V125L |
126 |
6 |
|
127 |
4.7 |
|
128 |
6.4 |
|
129 |
8.4 |
|
130 |
10.4 |
|
131 |
13.6 |
|
132 |
13.6 |
|
133 |
9.6 |
|
134 |
12.4 |
|
136 |
14.9 |
L136P |
137 |
14.4 |
I137V |
169 |
14.3 |
|
170 |
9.5 |
|
171 |
11.1 |
|
172 |
11.4 |
|
173 |
8.9 |
|
174 |
5.6 |
|
175 |
9.3 |
|
176 |
10 |
|
177 |
6.4 |
|
178 |
6 |
|
179 |
9.3 |
R179Q |
180 |
11.4 |
|
181 |
14.8 |
|
184 |
14.2 |
|
188 |
14.4 |
|