D454Y Summary

SCN5A D454Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D454Y is not present in gnomAD. D454Y has been functionally characterized in 0 papers. Other variants at the same resdue are D454A .D454E .D454E .D454G .D454H .D454N .D454V .D454Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D454Y 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 0.705

D454Y 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
439 14.7
440 14.2
441 13.7
442 13.2
443 12.6
444 12
445 11.4 H445D
446 10.7 E446K
447 10.1 A447G
448 9.3
449 8.5 T449A
450 7.6
451 6.6
452 5.4
453 3.8 V453M
455 3.8
456 5.4 V456M
457 6.6
458 7.6 R458C R458H
459 8.5
460 9.3
461 10.1 L461V
462 10.7 E462K
463 11.4 M463R
464 12
465 12.6
466 13.2 L466F L466F
467 13.7
468 14.2 P468L
469 14.7