P564S Summary

SCN5A P564S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. P564S is not present in gnomAD. P564S has been functionally characterized in 0 papers. Other variants at the same resdue are P564A .P564H .P564L .P564R .P564S .P564T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

P564S 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 0.762

P564S 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
549 14.7
550 14.2
551 13.7 A551T A551V
552 13.2 G552R G552R G552W
553 12.6
554 12
555 11.4 E555K
556 10.7
557 10.1 H557Y
558 9.3 H558R
559 8.5 T559I
560 7.6
561 6.6
562 5.4
563 3.8
565 3.8
566 5.4
567 6.6 L567Q
568 7.6 R568C R568H
569 8.5 R569Q R569W
570 9.3 T570N
571 10.1 S571I
572 10.7 A572D A572F A572S A572V
573 11.4 Q573E
574 12
575 12.6
576 13.2
577 13.7
578 14.2
579 14.7 G579R G579R