L624I Summary

SCN5A L624I was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L624I is not present in gnomAD. L624I has been functionally characterized in 0 papers. Other variants at the same resdue are L624I .L624P .L624Q .L624R .L624V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L624I 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 0.442

L624I 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
609 14.7
610 14.2
611 13.7
612 13.2
613 12.6
614 12
615 11.4 G615E
616 10.7
617 10.1
618 9.3 L618F
619 8.5 L619F
620 7.6 R620C R620H
621 6.6
622 5.4
623 3.8
625 3.8 E625D E625D
626 5.4
627 6.6 P627L
628 7.6
629 8.5
630 9.3 T630M
631 10.1
632 10.7 T632M
633 11.4
634 12 S634L
635 12.6
636 13.2
637 13.7
638 14.2
639 14.7 G639R G639R