E161G Summary

SCN5A E161G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E161G is not present in gnomAD. E161G has been functionally characterized in 0 papers. Other variants at the same resdue are E161A .E161D .E161D .E161G .E161K .E161Q .E161V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E161G 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 0.968

E161G has 49 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 11.6
141 12.8 I141N I141V
143 11.3
144 8.3
145 12.4
146 12.5 V146A V146M
147 7
148 9.5
149 12.7
150 12.1
151 9
152 14.6 D152N
153 14.6
154 13
155 11.4
156 8.9
157 6.6
158 5.6
159 7.4 Y159C
160 4.9
162 5.2
163 7.2
164 6.1
165 7.1
166 10.1 A166T
167 11.2
168 10.4
169 13.1
200 13.2
201 12.2
202 14.8
203 13.3
204 8.8
205 12.3
206 12.8
207 9.2
208 8.1
209 13.6
210 12.7
212 13.7
216 14.9 S216L
218 12.4
219 9.1 R219C
220 14.1 T220I
222 7.8 R222Q
223 12.9 V223L
225 13.2 R225Q R225W
855 14.6
859 13.5