P614L Summary

SCN5A P614L was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. P614L is not present in gnomAD. P614L has been functionally characterized in 0 papers. Other variants at the same resdue are P614A .P614L .P614Q .P614R .P614S .P614T . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

P614L 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 0.635

P614L 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
599 14.7 G599R G599R
600 14.2
601 13.7
602 13.2
603 12.6
604 12 L604V
605 11.4
606 10.7
607 10.1 G607V
608 9.3 D608N
609 8.5
610 7.6
611 6.6
612 5.4
613 3.8
615 3.8 G615E
616 5.4
617 6.6
618 7.6 L618F
619 8.5 L619F
620 9.3 R620C R620H
621 10.1
622 10.7
623 11.4
624 12 L624Q
625 12.6 E625D E625D
626 13.2
627 13.7 P627L
628 14.2
629 14.7