R478T Summary

SCN5A R478T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. R478T is not present in gnomAD. R478T has been functionally characterized in 0 papers. Other variants at the same resdue are R478G .R478K .R478M .R478S .R478S .R478T .R478W . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

R478T 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 0.529

R478T 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
463 14.7 M463R
464 14.2
465 13.7
466 13.2 L466F L466F
467 12.6
468 12 P468L
469 11.4
470 10.7 N470K N470K
471 10.1
472 9.3
473 8.5
474 7.6 R474K
475 6.6 R475K R475S R475S
476 5.4
477 3.8
479 3.8
480 5.4 K480N K480N
481 6.6 R481Q R481W
482 7.6
483 8.5
484 9.3
485 10.1
486 10.7
487 11.4
488 12
489 12.6
490 13.2
491 13.7
492 14.2
493 14.7 R493K