M440L Summary

SCN5A M440L was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. M440L is not present in gnomAD. M440L has been functionally characterized in 0 papers. Other variants at the same resdue are M440I .M440I .M440I .M440K .M440L .M440L .M440R .M440T .M440V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

M440L 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 0.291

M440L 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
425 14.7
426 14.2
427 13.7
428 13.2 E428K
429 12.6 E429K p.E429del
430 12
431 11.4
432 10.7
433 10.1 R433C
434 9.3
435 8.5
436 7.6
437 6.6
438 5.4
439 3.8
441 3.8
442 5.4
443 6.6
444 7.6
445 8.5 H445D
446 9.3 E446K
447 10.1 A447G
448 10.7
449 11.4 T449A
450 12
451 12.6
452 13.2
453 13.7 V453M
454 14.2
455 14.7