A204G Summary

SCN5A A204G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A204G is not present in gnomAD. A204G has been functionally characterized in 0 papers. Other variants at the same resdue are A204E .A204G .A204P .A204S .A204T .A204V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A204G 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 0.87

A204G has 50 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 14.3
141 13.8 I141N I141V
144 12
147 13.9
148 13.2
151 14.8
158 12.3
160 13
161 8.8 E161K
162 9.5
163 12.1
164 10.5
165 6.7
166 10.5 A166T
167 12.1
168 9
169 9.8
171 13.2
172 12.5
195 13.6
196 12.5
197 11.9
198 11.4
199 8.9
200 6.6
201 5.5
202 6.2
203 5.2
205 5.8
206 5.4
207 4.7
208 5.7
209 8.4
210 11.3
211 12.4
212 12.1
214 14.3
215 13.2
216 11.8 S216L
217 10.1
218 6.5
219 8.7 R219C
220 10.9 T220I
221 10.2
222 6.1 R222Q
223 11.4 V223L
224 11.7
225 10.6 R225Q R225W
226 14.5 A226V
859 13.5