A1294P Summary

SCN5A A1294P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1294P is not present in gnomAD. A1294P has been functionally characterized in 0 papers. Other variants at the same resdue are A1294D .A1294G .A1294P .A1294S .A1294T .A1294V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1294P 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

A1294P has 15 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
1287 14.9
1288 11.8
1289 12.7
1290 11
1291 7.6
1292 5.1
1293 4.6 F1293S
1295 4.8 E1295K
1296 4.9
1297 8.1
1298 10.6 P1298L
1299 13.6
1734 14
1735 14.4
1736 14.5