D191Y Summary

SCN5A D191Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D191Y is not present in gnomAD. D191Y has been functionally characterized in 0 papers. Other variants at the same resdue are D191A .D191E .D191E .D191G .D191H .D191N .D191V .D191Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D191Y 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

D191Y has 35 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
171 14.7
172 14.2
175 11.4
176 13.3
178 14.7
179 12.2 R179Q
180 13.8
183 14
184 11.3
185 10.2 A185T A185V
186 9.5
187 6.8 T187S T187S
188 6.8
189 7.2
190 6.2 R190G R190L R190Q R190W
192 3.9
193 6.3
194 4.5
195 7.8
196 8.6
197 9.1
198 9.8
199 11.7
200 13.8
201 14.9
224 14.7
225 13.9 R225Q R225W
227 13.1 L227P
228 11.5
230 15 I230T I230V
231 13.8
237 14.3
240 14.1 V240M
241 14.9
244 13.4