A1242S Summary

SCN5A A1242S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1242S is not present in gnomAD. A1242S has been functionally characterized in 0 papers. Other variants at the same resdue are A1242D .A1242G .A1242P .A1242S .A1242T .A1242V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1242S Predictions

PROVEAN scores less than -2 are considered deleterious. REVEL scores higher than 0.5 or 0.75 is considered likely pathogenic (higher sensitivity with the former cutoff, higher specificity with the latter cutoff). A PolyPhen-2 score of 0.85 or greater is considered likely pathogenic. PAM scores reflect the chemistry difference between WT and variant amino acid (more negative being greater difference between the two). BLAST-PSSM reflects the evolutionary conservation of residue substitutions, more negative numbers indicate fewer observations of the specific substitution than is expected.

SIFT Sift Score PROVEAN Score Polyphen2 Polyphen2 Score eaRate blastPssm pamScore REVEL
NA NA NA NA NA NA NA NA 0.899

A1242S has 53 neighbors within 15 ångströms that have been found in individuals.

A residue within a folded protein on average has nearest neighbors that fall roughly into two shells: a "nearest" neighbor around 5-6 angstroms and a second shell around 11 angstroms.

ResidueNumber Distance(Å) Variants
1210 14.9 F1210S
1211 14.7
1213 13.6
1214 10.4
1215 11.8 I1215V
1216 13.6
1217 9.6
1218 7.4 S1218I
1219 10.7
1220 11.1
1221 8.7 A1221V
1222 9.2
1223 13.2
1224 13.4
1225 11 E1225K
1229 13.4
1234 12.5
1235 10.4
1236 11.5 K1236R
1237 9
1238 6.9
1239 5.7 L1239P
1240 6.2 E1240Q
1241 4.6
1243 4.5 D1243N
1244 6.5
1245 4.7 M1245I M1245I M1245I
1246 5
1247 7.9 T1247I
1248 9.3
1249 9.7
1250 10.3
1251 13.7 V1251M
1252 15
1253 14.6
1278 13.7 I1278N
1279 13.9 V1279I
1281 13.6 V1281F
1282 10.6
1283 13.8
1284 14.8
1285 11.1
1286 11.9
1289 13
1299 14.7
1301 13.8
1302 14.2
1303 8.4 R1303Q
1304 13.2 T1304M
1305 14.6
1306 8.8 R1306H
1307 13.9
1309 14 R1309H