Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC17505473;5474;5475 chr2:178776616;178776615;178776614chr2:179641343;179641342;179641341
N2AB17505473;5474;5475 chr2:178776616;178776615;178776614chr2:179641343;179641342;179641341
N2A17505473;5474;5475 chr2:178776616;178776615;178776614chr2:179641343;179641342;179641341
N2B17045335;5336;5337 chr2:178776616;178776615;178776614chr2:179641343;179641342;179641341
Novex-117045335;5336;5337 chr2:178776616;178776615;178776614chr2:179641343;179641342;179641341
Novex-217045335;5336;5337 chr2:178776616;178776615;178776614chr2:179641343;179641342;179641341
Novex-317505473;5474;5475 chr2:178776616;178776615;178776614chr2:179641343;179641342;179641341

Information

  • RefSeq wild type amino acid: R
  • RefSeq wild type transcript codon: AGG
  • RefSeq wild type template codon: TCC
  • Domain: Ig-8
  • Domain position: 48
  • Structural Position: 115
  • Q(SASA): 0.2656
  • Predicted PPI site: I

Reported SAVs

SNV RS
DUET
PolyPhen-2
Condel
Rhapsody
REVEL
MVP
Source
MAF
Disease
Zygosity
Site annotation
mCSM PPI
Predicted PPI site
Comments
AFR
AMR
AMS
ASJ
EAS
EUR
FIN
MDE
NFE
SAS
OTH
R/S rs924534786 None 1.0 D 0.751 0.526 0.604474940213 gnomAD-3.1.2 6.57E-06 None None None None I None 2.41E-05 0 0 0 0 None 0 0 0 0 0
R/S rs924534786 None 1.0 D 0.751 0.526 0.604474940213 gnomAD-4.0.0 6.5703E-06 None None None None I None 2.41243E-05 0 None 0 0 None 0 0 0 0 0

Saturation Mutagenesis

SAV
AlphaMissense (IC)
AlphaMissense Class (IC)
AlphaMissense (N2AB)
AlphaMissense Class (N2AB)
mCSM
mCSM class
PolyPhen-2
PolyPhen-2 Class
Rhapsody
Rhapsody Class
Condel
Condel Score
Site annotation
mCSM PPI
Predicted PPI site
R/A 0.9828 likely_pathogenic 0.9816 pathogenic -1.365 Destabilizing 0.999 D 0.534 neutral None None None None I
R/C 0.9308 likely_pathogenic 0.9284 pathogenic -1.236 Destabilizing 1.0 D 0.75 deleterious None None None None I
R/D 0.9841 likely_pathogenic 0.9837 pathogenic -0.353 Destabilizing 1.0 D 0.743 deleterious None None None None I
R/E 0.9479 likely_pathogenic 0.9481 pathogenic -0.154 Destabilizing 0.999 D 0.577 neutral None None None None I
R/F 0.989 likely_pathogenic 0.9891 pathogenic -0.817 Destabilizing 1.0 D 0.759 deleterious None None None None I
R/G 0.9475 likely_pathogenic 0.9505 pathogenic -1.722 Destabilizing 1.0 D 0.723 prob.delet. D 0.683744564 None None I
R/H 0.6044 likely_pathogenic 0.6034 pathogenic -1.775 Destabilizing 1.0 D 0.735 prob.delet. None None None None I
R/I 0.9673 likely_pathogenic 0.9667 pathogenic -0.361 Destabilizing 1.0 D 0.767 deleterious None None None None I
R/K 0.6797 likely_pathogenic 0.7044 pathogenic -0.865 Destabilizing 0.997 D 0.443 neutral D 0.581133395 None None I
R/L 0.9364 likely_pathogenic 0.9349 pathogenic -0.361 Destabilizing 1.0 D 0.723 prob.delet. None None None None I
R/M 0.9833 likely_pathogenic 0.9838 pathogenic -0.836 Destabilizing 1.0 D 0.736 prob.delet. D 0.771986523 None None I
R/N 0.9692 likely_pathogenic 0.9657 pathogenic -0.792 Destabilizing 1.0 D 0.733 prob.delet. None None None None I
R/P 0.9867 likely_pathogenic 0.9884 pathogenic -0.679 Destabilizing 1.0 D 0.72 prob.delet. None None None None I
R/Q 0.6439 likely_pathogenic 0.6411 pathogenic -0.768 Destabilizing 1.0 D 0.709 prob.delet. None None None None I
R/S 0.9804 likely_pathogenic 0.9786 pathogenic -1.649 Destabilizing 1.0 D 0.751 deleterious D 0.708718949 None None I
R/T 0.972 likely_pathogenic 0.9684 pathogenic -1.23 Destabilizing 1.0 D 0.754 deleterious D 0.732777833 None None I
R/V 0.974 likely_pathogenic 0.9731 pathogenic -0.679 Destabilizing 1.0 D 0.757 deleterious None None None None I
R/W 0.9243 likely_pathogenic 0.9198 pathogenic -0.381 Destabilizing 1.0 D 0.749 deleterious D 0.805744296 None None I
R/Y 0.9621 likely_pathogenic 0.9605 pathogenic -0.207 Destabilizing 1.0 D 0.749 deleterious None None None None I

Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.