C1272G Summary

SCN5A C1272G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1272G is not present in gnomAD. C1272G has been functionally characterized in 0 papers. Other variants at the same resdue are C1272F .C1272G .C1272R .C1272S .C1272S .C1272W .C1272Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C1272G 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 0.907

C1272G has 46 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 14.9
1208 13.2 E1208K
1211 13
1212 14.3 p.I1212del
1215 14.2 I1215V
1250 12.2
1251 13.9 V1251M
1252 14.6
1253 10.3
1254 8.6
1255 13.1
1256 12.7
1257 7.5
1258 9.2
1259 13.1
1260 12
1261 7.7
1262 9.5 G1262S
1263 10.5
1264 12.2
1265 9.3
1266 4
1267 7.1
1268 7.6
1269 4.3 N1269S
1270 5.5
1271 6.4
1273 6.5
1274 6.7
1275 5.5 D1275N
1276 7.7
1277 9.4
1278 10.2 I1278N
1279 11.1 V1279I
1280 12.5
1281 15 V1281F
1305 13.8
1306 14.8 R1306H
1308 12.3 L1308F
1309 9.6 R1309H
1310 13.3
1311 12.3
1312 9
1313 13
1315 13.1
1316 13.2 R1316Q