A425S Summary

SCN5A A425S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A425S is not present in gnomAD. A425S has been functionally characterized in 0 papers. Other variants at the same resdue are A425D .A425G .A425P .A425S .A425T .A425V . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

A425S 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 0.53

A425S 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
410 14.7
411 14.2 V411M
412 13.7
413 13.2 A413T
414 12.6
415 12
416 11.4 Y416C
417 10.7
418 10.1
419 9.3
420 8.5
421 7.6
422 6.6
423 5.4
424 3.8 I424M
426 3.8
427 5.4
428 6.6 E428K
429 7.6 E429K p.E429del
430 8.5
431 9.3
432 10.1
433 10.7 R433C
434 11.4
435 12
436 12.6
437 13.2
438 13.7
439 14.2
440 14.7