L441F Summary

SCN5A L441F was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. L441F is present in 1 out of 246772 alleles in gnomAD (minor allele frequency of 0.000405%). L441F has been functionally characterized in 0 papers. Other variants at the same resdue are L441F .L441H .L441I .L441P .L441R .L441V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L441F 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
Damaging 0.03 -3.87 probablydamaging 0.999 1.055 1.93 -3 0.678

L441F 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
426 14.7
427 14.2
428 13.7 E428K
429 13.2 E429K p.E429del
430 12.6
431 12
432 11.4
433 10.7 R433C
434 10.1
435 9.3
436 8.5
437 7.6
438 6.6
439 5.4
440 3.8
442 3.8
443 5.4
444 6.6
445 7.6 H445D
446 8.5 E446K
447 9.3 A447G
448 10.1
449 10.7 T449A
450 11.4
451 12
452 12.6
453 13.2 V453M
454 13.7
455 14.2
456 14.7 V456M