L466S Summary

SCN5A L466S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L466S is not present in gnomAD. L466S has been functionally characterized in 0 papers. Other variants at the same resdue are L466F .L466F .L466M .L466S .L466V .L466W . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L466S 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 0.605

L466S 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
451 14.7
452 14.2
453 13.7 V453M
454 13.2
455 12.6
456 12 V456M
457 11.4
458 10.7 R458C R458H
459 10.1
460 9.3
461 8.5 L461V
462 7.6 E462K
463 6.6 M463R
464 5.4
465 3.8
467 3.8
468 5.4 P468L
469 6.6
470 7.6 N470K N470K
471 8.5
472 9.3
473 10.1
474 10.7 R474K
475 11.4 R475K R475S R475S
476 12
477 12.6
478 13.2
479 13.7
480 14.2 K480N K480N
481 14.7 R481Q R481W