L509I Summary

SCN5A L509I was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L509I is not present in gnomAD. L509I has been functionally characterized in 0 papers. Other variants at the same resdue are L509F .L509H .L509I .L509P .L509R .L509V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L509I 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 0.425

L509I 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
494 14.7
495 14.2
496 13.7
497 13.2
498 12.6
499 12
500 11.4
501 10.7
502 10.1
503 9.3
504 8.5 R504T
505 7.6
506 6.6 M506K
507 5.4
508 3.8
510 3.8
511 5.4
512 6.6 T512I
513 7.6 R513C
514 8.5 G514C
515 9.3
516 10.1
517 10.7
518 11.4
519 12
520 12.6 M520V
521 13.2 K521E
522 13.7
523 14.2 R523C R523H
524 14.7 S524Y