A1313G Summary

SCN5A A1313G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1313G is not present in gnomAD. A1313G has been functionally characterized in 0 papers. Other variants at the same resdue are A1313D .A1313G .A1313P .A1313S .A1313T .A1313V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1313G 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 0.924

A1313G has 52 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
1207 13.4
1208 10 E1208K
1209 9.5
1210 13.2 F1210S
1211 9.9
1212 6.1 p.I1212del
1213 11.7
1214 12.6
1215 8.7 I1215V
1216 8.8
1217 14
1218 13.9 S1218I
1219 12.6
1253 14.3
1257 14.9
1269 14.4 N1269S
1270 13.8
1271 9.2
1272 13
1274 12.3
1275 12.1 D1275N
1278 14.9 I1278N
1306 14.7 R1306H
1307 11.4
1308 11 L1308F
1309 8.5 R1309H
1310 5.7
1311 6.6
1312 5
1314 4.5
1315 5.3
1316 5.6 R1316Q
1317 7.5 F1317C
1318 11.6
1319 11.3 G1319V
1320 8.9 M1320I M1320I M1320I
1321 9.9
1322 14.1
1323 12.7
1324 10.9
1325 13.8 N1325S
1327 14.9
1659 11.7
1660 14.4 I1660V
1661 14 G1661R G1661R
1662 10.4
1663 11.4
1665 13.2
1666 10.1
1667 13.9 V1667I
1669 13.4
1670 13.6