In Silico Data
SCN5A Variant K158T Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-4.68 | 0.274 | -2.38 | 0.93 | 14 | 0 |
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 | - | - |
K158T has 31 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
144 | 13 | |
147 | 10 | |
148 | 13 | |
150 | 14 | |
151 | 11 | |
153 | 14 | |
154 | 12 | P154L, |
155 | 10 | |
156 | 7 | W156X, W156R, |
157 | 6 | T157I, |
158 | 0 | K158T, |
159 | 7 | Y159X, Y159C, |
160 | 7 | p.V160fs, |
161 | 6 | E161K, E161Q, |
162 | 6 | Y162C, Y162H, |
163 | 10 | c.486delC, |
164 | 11 | F164L, |
165 | 11 | |
166 | 14 | A166T, |
204 | 12 | A204T, c.611+1G>A, A204V, c.611+3_611+4dupAA, |
205 | 15 | c.612-2A>G, Y205X, |
206 | 15 | |
207 | 11 | |
208 | 9 | E208K, |
209 | 14 | N209T, N209S, |
210 | 11 | I210T, |
211 | 15 | |
212 | 12 | L212Q, L212P, |
218 | 14 | |
219 | 11 | c.656_657insATTCA, R219C, p.R219HfsX11, R219H, |
222 | 12 | R222L, R222Q, R222X, |