P503L Summary

SCN5A P503L was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. P503L is not present in gnomAD. P503L has been functionally characterized in 0 papers. Other variants at the same resdue are P503A .P503H .P503L .P503R .P503S .P503T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

P503L 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 0.249

P503L 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
488 14.7
489 14.2
490 13.7
491 13.2
492 12.6
493 12 R493K
494 11.4
495 10.7
496 10.1
497 9.3
498 8.5
499 7.6
500 6.6
501 5.4
502 3.8
504 3.8 R504T
505 5.4
506 6.6 M506K
507 7.6
508 8.5
509 9.3
510 10.1
511 10.7
512 11.4 T512I
513 12 R513C
514 12.6 G514C
515 13.2
516 13.7
517 14.2
518 14.7