F434L Summary

SCN5A F434L was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. F434L is not present in gnomAD. F434L has been functionally characterized in 0 papers. Other variants at the same resdue are F434C .F434I .F434L .F434L .F434L .F434S .F434V .F434Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

F434L 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 0.818

F434L 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
419 14.7
420 14.2
421 13.7
422 13.2
423 12.6
424 12 I424M
425 11.4
426 10.7
427 10.1
428 9.3 E428K
429 8.5 E429K p.E429del
430 7.6
431 6.6
432 5.4
433 3.8 R433C
435 3.8
436 5.4
437 6.6
438 7.6
439 8.5
440 9.3
441 10.1
442 10.7
443 11.4
444 12
445 12.6 H445D
446 13.2 E446K
447 13.7 A447G
448 14.2
449 14.7 T449A