L669I Summary

SCN5A L669I was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L669I is not present in gnomAD. L669I has been functionally characterized in 0 papers. Other variants at the same resdue are L669F .L669H .L669I .L669P .L669R .L669V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L669I 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 0.351

L669I 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
654 14.7 E654K
655 14.2 E655K
656 13.7 P656L
657 13.2
658 12.6
659 12 R659Q R659W
660 11.4
661 10.7 R661W
662 10.1 A662S
663 9.3
664 8.5 S664G
665 7.6 A665S A665T
666 6.6
667 5.4
668 3.8 V668I
670 3.8
671 5.4
672 6.6 A672T
673 7.6
674 8.5
675 9.3
676 10.1
677 10.7
678 11.4
679 12
680 12.6 R680C
681 13.2
682 13.7
683 14.2 C683R
684 14.7