In Silico Data
SCN5A Variant W193R Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-13.55 | 0.998 | -6.96 | 0.909 | 3 | 1 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
LITERATURE, COHORT, AND GNOMAD: | - | 1 | 1 | 0 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 14 | 0 | 1 | - | - |
W193R has 48 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
134 | 15 | N134S, |
137 | 15 | I137V, |
138 | 13 | M138I, |
141 | 14 | I141N, I141V, |
171 | 14 | |
175 | 13 | K175N, |
187 | 13 | T187I, T187S, |
188 | 11 | |
189 | 11 | |
190 | 12 | R190G, R190W, R190L, R190Q, |
191 | 6 | |
192 | 5 | |
193 | 0 | W193R, W193X, |
194 | 6 | |
195 | 8 | |
196 | 6 | |
197 | 8 | |
198 | 11 | |
199 | 11 | S199T, |
200 | 12 | |
201 | 14 | |
223 | 14 | V223L, |
224 | 10 | L224F, |
225 | 10 | R225Q, R225W, |
226 | 11 | A226G, A226V, |
227 | 7 | L227P, |
228 | 7 | K228R, |
229 | 11 | |
230 | 9 | I230V, I230T, I230M, |
231 | 9 | c.692_693delCA, |
232 | 13 | V232F, V232I, |
233 | 13 | |
235 | 15 | c.703+1G>A, c.704-1G>C, G235R, |
236 | 11 | |
237 | 11 | |
239 | 14 | I239V, I239V , |
240 | 9 | V240M, |
241 | 11 | |
242 | 14 | A242D, |
243 | 12 | |
244 | 10 | |
245 | 14 | Q245K, |
247 | 15 | V247L, |
248 | 14 | |
845 | 13 | c.2533delG, |
848 | 13 | I848F, |
849 | 14 | |
852 | 14 |