M506V Summary

SCN5A M506V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. M506V is not present in gnomAD. M506V has been functionally characterized in 0 papers. Other variants at the same resdue are M506I .M506I .M506I .M506K .M506L .M506L .M506R .M506T .M506V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

M506V 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 0.57

M506V 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
491 14.7
492 14.2
493 13.7 R493K
494 13.2
495 12.6
496 12
497 11.4
498 10.7
499 10.1
500 9.3
501 8.5
502 7.6
503 6.6
504 5.4 R504T
505 3.8
507 3.8
508 5.4
509 6.6
510 7.6
511 8.5
512 9.3 T512I
513 10.1 R513C
514 10.7 G514C
515 11.4
516 12
517 12.6
518 13.2
519 13.7
520 14.2 M520V
521 14.7 K521E