In Silico Data
SCN5A Variant c.486delC Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
NA | NA | NA | None | 57 | 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 |
c.486delC has 37 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
136 | 13 | L136P, |
137 | 12 | I137V, |
139 | 13 | p.I137_C139dup, |
140 | 9 | |
141 | 13 | I141V, I141N, |
142 | 15 | |
143 | 11 | |
144 | 11 | |
145 | 15 | |
146 | 15 | V146M, V146A, |
147 | 11 | |
148 | 14 | |
151 | 15 | |
156 | 15 | W156X, W156R, |
157 | 10 | T157I, |
158 | 10 | K158T, |
159 | 7 | Y159X, Y159C, |
160 | 5 | p.V160fs, |
161 | 7 | E161Q, E161K, |
162 | 6 | Y162H, Y162C, |
163 | 0 | c.486delC, |
164 | 5 | F164L, |
165 | 6 | |
166 | 5 | A166T, |
167 | 6 | |
168 | 9 | |
169 | 10 | |
170 | 11 | F170I, |
171 | 13 | |
172 | 15 | |
201 | 13 | |
204 | 12 | c.611+1G>A, A204T, A204V, c.611+3_611+4dupAA, |
205 | 13 | Y205X, c.612-2A>G, |
207 | 14 | |
208 | 11 | E208K, |
222 | 13 | R222Q, R222L, R222X, |
225 | 14 | R225Q, R225W, |