I424S Summary

SCN5A I424S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. I424S is not present in gnomAD. I424S has been functionally characterized in 0 papers. Other variants at the same resdue are I424F .I424L .I424M .I424N .I424S .I424T .I424V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

I424S 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 0.766

I424S 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
409 14.7 L409V
410 14.2
411 13.7 V411M
412 13.2
413 12.6 A413T
414 12
415 11.4
416 10.7 Y416C
417 10.1
418 9.3
419 8.5
420 7.6
421 6.6
422 5.4
423 3.8
425 3.8
426 5.4
427 6.6
428 7.6 E428K
429 8.5 E429K p.E429del
430 9.3
431 10.1
432 10.7
433 11.4 R433C
434 12
435 12.6
436 13.2
437 13.7
438 14.2
439 14.7