P609S Summary

SCN5A P609S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. P609S is not present in gnomAD. P609S has been functionally characterized in 0 papers. Other variants at the same resdue are P609A .P609L .P609Q .P609R .P609S .P609T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

P609S 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 0.433

P609S 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
594 14.7
595 14.2
596 13.7
597 13.2
598 12.6
599 12 G599R G599R
600 11.4
601 10.7
602 10.1
603 9.3
604 8.5 L604V
605 7.6
606 6.6
607 5.4 G607V
608 3.8 D608N
610 3.8
611 5.4
612 6.6
613 7.6
614 8.5
615 9.3 G615E
616 10.1
617 10.7
618 11.4 L618F
619 12 L619F
620 12.6 R620C R620H
621 13.2
622 13.7
623 14.2
624 14.7 L624Q