L448R Summary

SCN5A L448R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L448R is not present in gnomAD. L448R has been functionally characterized in 0 papers. Other variants at the same resdue are L448F .L448H .L448I .L448P .L448R .L448V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L448R 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 0.643

L448R 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
433 14.7 R433C
434 14.2
435 13.7
436 13.2
437 12.6
438 12
439 11.4
440 10.7
441 10.1
442 9.3
443 8.5
444 7.6
445 6.6 H445D
446 5.4 E446K
447 3.8 A447G
449 3.8 T449A
450 5.4
451 6.6
452 7.6
453 8.5 V453M
454 9.3
455 10.1
456 10.7 V456M
457 11.4
458 12 R458C R458H
459 12.6
460 13.2
461 13.7 L461V
462 14.2 E462K
463 14.7 M463R