Q575P Summary

SCN5A Q575P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. Q575P is not present in gnomAD. Q575P has been functionally characterized in 0 papers. Other variants at the same resdue are Q575E .Q575H .Q575H .Q575K .Q575L .Q575P .Q575R . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

Q575P 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 0.653

Q575P 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
560 14.7
561 14.2
562 13.7
563 13.2
564 12.6
565 12
566 11.4
567 10.7 L567Q
568 10.1 R568C R568H
569 9.3 R569Q R569W
570 8.5 T570N
571 7.6 S571I
572 6.6 A572D A572F A572S A572V
573 5.4 Q573E
574 3.8
576 3.8
577 5.4
578 6.6
579 7.6 G579R G579R
580 8.5
581 9.3 S581L
582 10.1
583 10.7
584 11.4 G584R
585 12
586 12.6 A586T
587 13.2
588 13.7
589 14.2
590 14.7