P468A Summary

SCN5A P468A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. P468A is not present in gnomAD. P468A has been functionally characterized in 0 papers. Other variants at the same resdue are P468A .P468L .P468Q .P468R .P468S .P468T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

P468A 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 0.198

P468A 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
453 14.7 V453M
454 14.2
455 13.7
456 13.2 V456M
457 12.6
458 12 R458C R458H
459 11.4
460 10.7
461 10.1 L461V
462 9.3 E462K
463 8.5 M463R
464 7.6
465 6.6
466 5.4 L466F L466F
467 3.8
469 3.8
470 5.4 N470K N470K
471 6.6
472 7.6
473 8.5
474 9.3 R474K
475 10.1 R475K R475S R475S
476 10.7
477 11.4
478 12
479 12.6
480 13.2 K480N K480N
481 13.7 R481Q R481W
482 14.2
483 14.7