A166D Summary

SCN5A A166D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A166D is not present in gnomAD. A166D has been functionally characterized in 0 papers. Other variants at the same resdue are A166D .A166G .A166P .A166S .A166T .A166V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A166D 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 0.914

A166D has 40 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
133 13.1
136 13 L136P
137 11.1 I137V
139 14.7
140 10.4
141 13.1 I141N I141V
143 13.9
144 12.9
147 14.6
157 14.7
158 13.6
159 12.1 Y159C
160 10.1
161 10.1 E161K
162 8.1
163 5.4
164 7.2
165 4.1
167 4.1
168 6.3
169 4.9
170 7.1
171 8.9
172 9.7
173 10.7
174 12.2
175 13.6
197 13.8
198 13.5
200 13.5
201 9.7
202 13
204 10.5
205 10
206 14.1
207 13.5
208 10
209 14.5
222 13.3 R222Q
225 12.8 R225Q R225W