E171Q Summary

SCN5A E171Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E171Q is not present in gnomAD. E171Q has been functionally characterized in 0 papers. Other variants at the same resdue are E171A .E171D .E171D .E171G .E171K .E171Q .E171V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E171Q 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 0.956

E171Q has 60 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
123 14.4 A123V
124 11.1
125 12.5 V125L V125L
127 10.4
128 8.1
129 12.2
130 13.3
131 13.7
132 13
133 7.3
134 8.9
135 13
136 10.2 L136P
137 6.4 I137V
138 10.4
139 12.6
140 9.9
141 10.7 I141N I141V
142 14.8
143 15
144 14.2
163 12.7
164 11.4
165 9.8
166 8.9 A166T
167 6.8
168 5.8
169 6.5
170 5.8
172 4.6
173 7.5
174 6.1
175 5.3
176 9.4
177 10.9
178 11.1
179 12.5 R179Q
180 13.8
185 14.3 A185T A185V
188 11.1
189 14.5
191 14.7
193 14.4
194 10.3
195 14.4
196 12.3
197 7.4
198 8.1
199 12.4
200 11.6
201 8.6
202 12.5
204 13.2
205 13.6
222 15 R222Q
225 9.2 R225Q R225W
226 14.4 A226V
228 10.9
229 14.9
231 14.8