L561P Summary

SCN5A L561P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L561P is not present in gnomAD. L561P has been functionally characterized in 0 papers. Other variants at the same resdue are L561M .L561P .L561Q .L561R .L561V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L561P 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 0.77

L561P 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
546 14.7
547 14.2
548 13.7
549 13.2
550 12.6
551 12 A551T A551V
552 11.4 G552R G552R G552W
553 10.7
554 10.1
555 9.3 E555K
556 8.5
557 7.6 H557Y
558 6.6 H558R
559 5.4 T559I
560 3.8
562 3.8
563 5.4
564 6.6
565 7.6
566 8.5
567 9.3 L567Q
568 10.1 R568C R568H
569 10.7 R569Q R569W
570 11.4 T570N
571 12 S571I
572 12.6 A572D A572F A572S A572V
573 13.2 Q573E
574 13.7
575 14.2
576 14.7