P578A Summary

SCN5A P578A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. P578A is not present in gnomAD. P578A has been functionally characterized in 0 papers. Other variants at the same resdue are P578A .P578H .P578L .P578R .P578S .P578T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

P578A 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 0.335

P578A 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
563 14.7
564 14.2
565 13.7
566 13.2
567 12.6 L567Q
568 12 R568C R568H
569 11.4 R569Q R569W
570 10.7 T570N
571 10.1 S571I
572 9.3 A572D A572F A572S A572V
573 8.5 Q573E
574 7.6
575 6.6
576 5.4
577 3.8
579 3.8 G579R G579R
580 5.4
581 6.6 S581L
582 7.6
583 8.5
584 9.3 G584R
585 10.1
586 10.7 A586T
587 11.4
588 12
589 12.6
590 13.2
591 13.7
592 14.2 N592K N592K N592S
593 14.7