D197N Summary

SCN5A D197N was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D197N is not present in gnomAD. D197N has been functionally characterized in 0 papers. Other variants at the same resdue are D197A .D197E .D197E .D197G .D197H .D197N .D197V .D197Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D197N 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 0.949

D197N has 59 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
128 12.3
133 12.9
134 12
136 15 L136P
137 9.9 I137V
138 10.8
140 12.6
141 10.3 I141N I141V
142 14.7
144 13.9
164 13.9
165 12.4
166 13.8 A166T
167 12.2
168 8.4
169 10.9
170 13
171 7.4
172 8.1
173 12.5
174 11.8
175 7.7
176 11.3
178 14.2
179 13.7 R179Q
180 14.8
184 14.9
185 12.3 A185T A185V
186 14.9
187 12.5 T187S T187S
188 8.6
189 9.6
190 14.3 R190G R190L R190Q R190W
191 9.1
192 9
193 7.9
194 5
195 7.6
196 5
198 4.7
199 6.9
200 6.8
201 6.9
202 9.9
203 11.3
204 11.9
205 14.1
221 13.4
222 12.5 R222Q
223 12.3 V223L
224 9.6
225 5.8 R225Q R225W
226 10.3 A226V
227 9.6 L227P
228 6.8
229 12
230 13.1 I230T I230V
231 12
232 14.8 V232I