L511I Summary

SCN5A L511I was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L511I is not present in gnomAD. L511I has been functionally characterized in 0 papers. Other variants at the same resdue are L511F .L511H .L511I .L511P .L511R .L511V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L511I 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 0.399

L511I 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
496 14.7
497 14.2
498 13.7
499 13.2
500 12.6
501 12
502 11.4
503 10.7
504 10.1 R504T
505 9.3
506 8.5 M506K
507 7.6
508 6.6
509 5.4
510 3.8
512 3.8 T512I
513 5.4 R513C
514 6.6 G514C
515 7.6
516 8.5
517 9.3
518 10.1
519 10.7
520 11.4 M520V
521 12 K521E
522 12.6
523 13.2 R523C R523H
524 13.7 S524Y
525 14.2
526 14.7 R526C R526H