D1280V Summary

SCN5A D1280V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1280V is not present in gnomAD. D1280V has been functionally characterized in 0 papers. Other variants at the same resdue are D1280A .D1280E .D1280E .D1280G .D1280H .D1280N .D1280V .D1280Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

D1280V 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 0.671

D1280V has 41 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
1243 13.2 D1243N
1246 14.6
1247 10 T1247I
1248 13.2
1249 13.5
1250 9.8
1251 9.8 V1251M
1252 14.3
1253 12.7
1254 9.4
1255 12.9
1257 14.3
1258 11.3
1266 12.4
1267 11.8
1270 14.5
1272 12.5
1273 9.3
1274 10.2
1275 9.3 D1275N
1276 5.4
1277 5.6
1278 6.6 I1278N
1279 4.1 V1279I
1281 5.1 V1281F
1282 6.3
1283 5.4
1284 7.1
1285 10
1286 10.5
1287 10.9
1288 13.2
1299 14
1301 14.4
1302 10.1
1303 12.9 R1303Q
1304 13.6 T1304M
1305 10.2
1306 11.1 R1306H
1308 13.8 L1308F
1309 12.9 R1309H