In Silico Data
SCN5A Variant S1218I Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-5.86 | 1 | -5.97 | 0.961 | 45 | 6 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
23424222 | 2013 | 3 | 0 | 3 | 0 | ||
LITERATURE, COHORT, AND GNOMAD: | - | 3 | 0 | 0 | 3 | - | |
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) |
---|---|---|---|---|---|---|
23424222 | 2013 | CHO | 0 |
S1218I has 57 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
1209 | 14 | T1209R, |
1210 | 12 | F1210S, |
1211 | 11 | |
1212 | 11 | p.I1212del, |
1213 | 9 | |
1214 | 7 | M1214T, |
1215 | 6 | I1215V, |
1216 | 6 | L1216V, |
1217 | 4 | |
1218 | 0 | S1218T, S1218I, |
1219 | 4 | S1219N, |
1220 | 5 | G1220E, |
1221 | 5 | A1221V, |
1222 | 6 | p.L1222LfsX7, L1222R, |
1223 | 9 | c.3667delG, |
1224 | 10 | |
1225 | 11 | E1225K, G1225K, |
1226 | 14 | |
1235 | 13 | |
1237 | 15 | V1237F, |
1238 | 11 | |
1239 | 9 | L1239P, |
1240 | 12 | E1240Q, |
1241 | 11 | |
1242 | 7 | |
1243 | 10 | D1243N, |
1244 | 13 | K1244E, |
1245 | 10 | M1245I, |
1246 | 6 | |
1247 | 12 | T1247I, |
1248 | 14 | |
1249 | 11 | V1249D, |
1250 | 10 | |
1253 | 14 | E1253G, |
1275 | 14 | D1275N, |
1278 | 12 | I1278N, |
1279 | 15 | V1279I, |
1281 | 15 | V1281F, c.3840+1G>A, |
1282 | 13 | S1282A, |
1301 | 14 | |
1302 | 15 | p.L1302Vfs18, |
1303 | 9 | R1303Q, R1303W, |
1304 | 11 | T1304M, |
1305 | 12 | |
1306 | 7 | R1306S, R1306H, |
1307 | 9 | |
1308 | 12 | L1308F, |
1309 | 9 | R1309C, R1309H, |
1310 | 10 | |
1311 | 14 | L1311P, |
1313 | 14 | |
1666 | 14 | |
1669 | 11 | |
1670 | 13 | |
1672 | 15 | S1672Y, |
1673 | 11 | |
1697 | 14 |