A185E Summary

SCN5A A185E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A185E is not present in gnomAD. A185E has been functionally characterized in 0 papers. Other variants at the same resdue are A185E .A185G .A185P .A185S .A185T .A185V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A185E 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 0.388

A185E has 33 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
112 12.5
113 9.8
114 10.5
121 14.2 R121Q R121W
171 14.3
172 10.9
173 12.1
174 13
175 10.3
176 6.9
177 11.1
178 11.1
179 9.7 R179Q
180 6.3
181 7.4
182 5.5
183 6.4
184 5.5
186 5.4
187 5.2 T187S T187S
188 4.8
189 5.7
190 9.3 R190G R190L R190Q R190W
191 10.2
192 12.6
194 9.5
195 11.2
196 13.9
197 12.3
198 8.6
199 12.5
201 14.3
202 13.3