In Silico Data
SCN5A Variant C182R Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-11.49 | 0.998 | -2.07 | 0.959 | 47 | 0 |
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 | 12 | 0 | 3 | - | - |
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 |
C182R has 26 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
112 | 10 | Y112C, |
113 | 6 | V113A, V113I, |
114 | 9 | |
115 | 13 | S115G, |
116 | 15 | |
121 | 14 | R121Q, R121W, |
172 | 14 | |
173 | 14 | |
175 | 14 | K175N, |
176 | 9 | |
177 | 12 | L177P, |
178 | 13 | A178G, |
179 | 12 | R179X, R179Q, |
180 | 6 | G180V, |
181 | 5 | |
182 | 0 | C182Y, C182R, |
183 | 4 | |
184 | 7 | H184R, |
185 | 6 | A185V, A185T, |
186 | 8 | |
187 | 9 | T187I, T187S, |
188 | 10 | |
189 | 11 | |
190 | 13 | R190G, R190W, R190Q, R190L, |
194 | 15 | |
198 | 14 |