In Silico Data
SCN5A Variant c.656_657insATTCA Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
NA | NA | NA | None | 23 | 2 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
20129283 | 2010 | 1 | 0 | 1 | 0 | ||
LITERATURE, COHORT, AND GNOMAD: | - | 1 | 0 | 0 | 1 | - | |
VARIANT FEATURES ALONE: | - | 15 | 13 | 0 | 2 | - | - |
Functional Data
PubMed ID | Year | Cell Type | Peak Current (%WT) | V1/2 Act. (mV) | V1/2 Inact. (mV) | Late/Persistent Current (%WT) |
---|
PubMed ID | Year | Cell Type | Peak Current (%WT) | V1/2 Act. (mV) | V1/2 Inact. (mV) | Late/Persistent Current (%WT) |
---|---|---|---|---|---|---|
20129283 | 2010 |
c.656_657insATTCA has 63 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
144 | 12 | |
145 | 14 | |
147 | 11 | |
148 | 9 | |
149 | 13 | |
150 | 15 | |
151 | 9 | |
152 | 13 | D152N, |
154 | 14 | P154L, |
155 | 15 | |
156 | 10 | W156X, W156R, |
157 | 13 | T157I, |
158 | 11 | K158T, |
160 | 14 | p.V160fs, |
161 | 9 | E161K, E161Q, |
162 | 13 | Y162C, Y162H, |
164 | 13 | F164L, |
165 | 13 | |
168 | 15 | |
199 | 15 | S199T, |
200 | 11 | |
201 | 13 | |
202 | 14 | I202T, |
203 | 10 | |
204 | 9 | c.611+3_611+4dupAA, c.611+1G>A, A204T, A204V, |
205 | 14 | Y205X, c.612-2A>G, |
206 | 11 | |
207 | 7 | |
208 | 11 | E208K, |
209 | 13 | N209S, N209T, |
210 | 12 | I210T, |
211 | 13 | |
212 | 10 | L212P, L212Q, |
213 | 12 | |
214 | 12 | |
215 | 10 | p.L215CfsX10, |
216 | 6 | S216L, S216X, |
217 | 7 | |
218 | 6 | |
219 | 0 | R219H, p.R219HfsX11, R219C, c.656_657insATTCA, |
220 | 6 | T220I, |
221 | 9 | |
222 | 6 | R222Q, R222L, R222X, |
223 | 9 | V223L, |
224 | 12 | L224F, |
225 | 14 | R225W, R225Q, |
226 | 15 | A226G, A226V, |
851 | 15 | c.2550_2551dupGT, p.F851CfsX19, F851L, c.2552_2553dupGT, |
852 | 14 | |
854 | 13 | c.2559delT, |
855 | 10 | |
856 | 10 | V856L, |
857 | 11 | G857D, |
858 | 10 | M858L, |
859 | 5 | |
860 | 10 | p.L860fsx89, |
861 | 13 | c.2582_2583delTT, p.F861WfsX90, |
862 | 11 | |
863 | 11 | |
864 | 14 | |
881 | 14 | |
882 | 15 | |
884 | 15 |