T427N Summary

SCN5A T427N was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. T427N is not present in gnomAD. T427N has been functionally characterized in 0 papers. Other variants at the same resdue are T427A .T427I .T427N .T427P .T427S .T427S . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

T427N 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 0.439

T427N 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
412 14.7
413 14.2 A413T
414 13.7
415 13.2
416 12.6 Y416C
417 12
418 11.4
419 10.7
420 10.1
421 9.3
422 8.5
423 7.6
424 6.6 I424M
425 5.4
426 3.8
428 3.8 E428K
429 5.4 E429K p.E429del
430 6.6
431 7.6
432 8.5
433 9.3 R433C
434 10.1
435 10.7
436 11.4
437 12
438 12.6
439 13.2
440 13.7
441 14.2
442 14.7