M520R Summary

SCN5A M520R was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. M520R is present in 1 out of 237316 alleles in gnomAD (minor allele frequency of 0.000421%). M520R has been functionally characterized in 0 papers. Other variants at the same resdue are M520I .M520I .M520I .M520K .M520L .M520L .M520R .M520T .M520V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

M520R 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 0.377 -0.89 benign 0 3.435 -0.12 -4 0.457

M520R 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
505 14.7
506 14.2 M506K
507 13.7
508 13.2
509 12.6
510 12
511 11.4
512 10.7 T512I
513 10.1 R513C
514 9.3 G514C
515 8.5
516 7.6
517 6.6
518 5.4
519 3.8
521 3.8 K521E
522 5.4
523 6.6 R523C R523H
524 7.6 S524Y
525 8.5
526 9.3 R526C R526H
527 10.1 G527R G527R
528 10.7 S528R S528R S528R
529 11.4
530 12 F530V
531 12.6 T531A
532 13.2 F532C F532L F532L F532L
533 13.7 R533C R533H R533S
534 14.2
535 14.7 R535Q