I529M Summary

SCN5A I529M was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. I529M is not present in gnomAD. I529M has been functionally characterized in 0 papers. Other variants at the same resdue are I529F .I529L .I529M .I529N .I529S .I529T .I529V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

I529M 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 0.532

I529M 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
514 14.7 G514C
515 14.2
516 13.7
517 13.2
518 12.6
519 12
520 11.4 M520V
521 10.7 K521E
522 10.1
523 9.3 R523C R523H
524 8.5 S524Y
525 7.6
526 6.6 R526C R526H
527 5.4 G527R G527R
528 3.8 S528R S528R S528R
530 3.8 F530V
531 5.4 T531A
532 6.6 F532C F532L F532L F532L
533 7.6 R533C R533H R533S
534 8.5
535 9.3 R535Q
536 10.1 D536H
537 10.7
538 11.4
539 12
540 12.6
541 13.2
542 13.7
543 14.2
544 14.7