R569L Summary

SCN5A R569L was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. R569L is not present in gnomAD. R569L has been functionally characterized in 0 papers. Other variants at the same resdue are R569G .R569L .R569P .R569Q .R569W . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

R569L 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 0.613

R569L 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
554 14.7
555 14.2 E555K
556 13.7
557 13.2 H557Y
558 12.6 H558R
559 12 T559I
560 11.4
561 10.7
562 10.1
563 9.3
564 8.5
565 7.6
566 6.6
567 5.4 L567Q
568 3.8 R568C R568H
570 3.8 T570N
571 5.4 S571I
572 6.6 A572D A572F A572S A572V
573 7.6 Q573E
574 8.5
575 9.3
576 10.1
577 10.7
578 11.4
579 12 G579R G579R
580 12.6
581 13.2 S581L
582 13.7
583 14.2
584 14.7 G584R