L587P Summary

SCN5A L587P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L587P is not present in gnomAD. L587P has been functionally characterized in 0 papers. Other variants at the same resdue are L587F .L587H .L587I .L587P .L587R .L587V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

L587P 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 0.629

L587P 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
572 14.7 A572D A572F A572S A572V
573 14.2 Q573E
574 13.7
575 13.2
576 12.6
577 12
578 11.4
579 10.7 G579R G579R
580 10.1
581 9.3 S581L
582 8.5
583 7.6
584 6.6 G584R
585 5.4
586 3.8 A586T
588 3.8
589 5.4
590 6.6
591 7.6
592 8.5 N592K N592K N592S
593 9.3
594 10.1
595 10.7
596 11.4
597 12
598 12.6
599 13.2 G599R G599R
600 13.7
601 14.2
602 14.7