M463T Summary

SCN5A M463T was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. M463T is present in 1 out of 248608 alleles in gnomAD (minor allele frequency of 0.000402%). M463T has been functionally characterized in 0 papers. Other variants at the same resdue are M463I .M463I .M463I .M463K .M463L .M463L .M463R .M463T .M463V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

M463T 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
Tolerated 0.572 -1.16 benign 0.144 1.358 0.58 -4 0.449

M463T 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
448 14.7
449 14.2 T449A
450 13.7
451 13.2
452 12.6
453 12 V453M
454 11.4
455 10.7
456 10.1 V456M
457 9.3
458 8.5 R458C R458H
459 7.6
460 6.6
461 5.4 L461V
462 3.8 E462K
464 3.8
465 5.4
466 6.6 L466F L466F
467 7.6
468 8.5 P468L
469 9.3
470 10.1 N470K N470K
471 10.7
472 11.4
473 12
474 12.6 R474K
475 13.2 R475K R475S R475S
476 13.7
477 14.2
478 14.7