I450L Summary

SCN5A I450L was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. I450L is not present in gnomAD. I450L has been functionally characterized in 0 papers. Other variants at the same resdue are I450F .I450L .I450M .I450N .I450S .I450T .I450V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

I450L 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 0.432

I450L 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
435 14.7
436 14.2
437 13.7
438 13.2
439 12.6
440 12
441 11.4
442 10.7
443 10.1
444 9.3
445 8.5 H445D
446 7.6 E446K
447 6.6 A447G
448 5.4
449 3.8 T449A
451 3.8
452 5.4
453 6.6 V453M
454 7.6
455 8.5
456 9.3 V456M
457 10.1
458 10.7 R458C R458H
459 11.4
460 12
461 12.6 L461V
462 13.2 E462K
463 13.7 M463R
464 14.2
465 14.7