A217G Summary
SCN5A A217G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A217G is not present in gnomAD. A217G has been functionally characterized in 0 papers. Other variants at the same resdue are A217D .A217G .A217P .A217S .A217T .A217V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A217G 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 |
0.852 |
A217G has 43 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 |
148 |
14.5 |
|
196 |
14.7 |
|
199 |
12 |
|
200 |
10.7 |
|
201 |
13.5 |
|
202 |
12.1 |
|
203 |
7.2 |
|
204 |
10.1 |
|
205 |
14.3 |
|
206 |
9.8 |
|
207 |
8.8 |
|
208 |
13.5 |
|
209 |
13.3 |
|
210 |
14.1 |
|
211 |
12 |
|
212 |
10.8 |
|
213 |
10.8 |
|
214 |
8.9 |
|
215 |
5.2 |
|
216 |
3.8 |
S216L |
218 |
4.1 |
|
219 |
7 |
R219C |
220 |
4.3 |
T220I |
221 |
5.4 |
|
222 |
9.1 |
R222Q |
223 |
10.9 |
V223L |
224 |
11.2 |
|
852 |
14.2 |
|
854 |
15 |
|
855 |
12.4 |
|
856 |
9.6 |
|
857 |
11.4 |
G857D |
858 |
12.8 |
M858L M858L |
859 |
7.8 |
|
860 |
7.8 |
|
861 |
11.5 |
|
862 |
12.9 |
|
863 |
12.8 |
|
864 |
14.3 |
|
910 |
15 |
S910L |
913 |
13.8 |
|
914 |
11.3 |
|
918 |
14 |
|