A447P Summary

SCN5A A447P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A447P is not present in gnomAD. A447P has been functionally characterized in 0 papers. Other variants at the same resdue are A447D .A447G .A447P .A447S .A447T .A447V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A447P 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 0.626

A447P has 30 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
432 14.7
433 14.2 R433C
434 13.7
435 13.2
436 12.6
437 12
438 11.4
439 10.7
440 10.1
441 9.3
442 8.5
443 7.6
444 6.6
445 5.4 H445D
446 3.8 E446K
448 3.8
449 5.4 T449A
450 6.6
451 7.6
452 8.5
453 9.3 V453M
454 10.1
455 10.7
456 11.4 V456M
457 12
458 12.6 R458C R458H
459 13.2
460 13.7
461 14.2 L461V
462 14.7 E462K