T449P Summary

SCN5A T449P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. T449P is not present in gnomAD. T449P has been functionally characterized in 0 papers. Other variants at the same resdue are T449A .T449I .T449N .T449P .T449S .T449S .Y449C . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

T449P 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 0.521

T449P 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
434 14.7
435 14.2
436 13.7
437 13.2
438 12.6
439 12
440 11.4
441 10.7
442 10.1
443 9.3
444 8.5
445 7.6 H445D
446 6.6 E446K
447 5.4 A447G
448 3.8
450 3.8
451 5.4
452 6.6
453 7.6 V453M
454 8.5
455 9.3
456 10.1 V456M
457 10.7
458 11.4 R458C R458H
459 12
460 12.6
461 13.2 L461V
462 13.7 E462K
463 14.2 M463R
464 14.7