Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1597448145;48146;48147 chr2:178616969;178616968;178616967chr2:179481696;179481695;179481694
N2AB1433343222;43223;43224 chr2:178616969;178616968;178616967chr2:179481696;179481695;179481694
N2A1340640441;40442;40443 chr2:178616969;178616968;178616967chr2:179481696;179481695;179481694
N2B690920950;20951;20952 chr2:178616969;178616968;178616967chr2:179481696;179481695;179481694
Novex-1703421325;21326;21327 chr2:178616969;178616968;178616967chr2:179481696;179481695;179481694
Novex-2710121526;21527;21528 chr2:178616969;178616968;178616967chr2:179481696;179481695;179481694
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTT
  • RefSeq wild type template codon: CAA
  • Domain: Ig-109
  • Domain position: 7
  • Structural Position: 16
  • Q(SASA): 0.4841
  • 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
V/I rs1346269011 -0.405 0.016 N 0.275 0.076 0.32471235697 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.94E-06 0
V/I rs1346269011 -0.405 0.016 N 0.275 0.076 0.32471235697 gnomAD-4.0.0 1.36925E-06 None None None None I None 0 0 None 0 0 None 0 0 1.79988E-06 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
V/A 0.7053 likely_pathogenic 0.7156 pathogenic -2.016 Highly Destabilizing 0.834 D 0.484 neutral D 0.53897833 None None I
V/C 0.9149 likely_pathogenic 0.9128 pathogenic -1.646 Destabilizing 0.998 D 0.695 prob.neutral None None None None I
V/D 0.9555 likely_pathogenic 0.9542 pathogenic -2.407 Highly Destabilizing 0.973 D 0.742 deleterious D 0.614499048 None None I
V/E 0.918 likely_pathogenic 0.9134 pathogenic -2.279 Highly Destabilizing 0.979 D 0.707 prob.neutral None None None None I
V/F 0.7122 likely_pathogenic 0.7122 pathogenic -1.303 Destabilizing 0.946 D 0.719 prob.delet. D 0.571685124 None None I
V/G 0.7583 likely_pathogenic 0.7569 pathogenic -2.462 Highly Destabilizing 0.973 D 0.743 deleterious D 0.612585371 None None I
V/H 0.9794 likely_pathogenic 0.9773 pathogenic -2.077 Highly Destabilizing 0.998 D 0.723 prob.delet. None None None None I
V/I 0.1736 likely_benign 0.1727 benign -0.818 Destabilizing 0.016 N 0.275 neutral N 0.46744077 None None I
V/K 0.9439 likely_pathogenic 0.9359 pathogenic -1.694 Destabilizing 0.979 D 0.705 prob.neutral None None None None I
V/L 0.8152 likely_pathogenic 0.8148 pathogenic -0.818 Destabilizing 0.263 N 0.415 neutral D 0.56666651 None None I
V/M 0.6819 likely_pathogenic 0.6664 pathogenic -0.858 Destabilizing 0.959 D 0.671 neutral None None None None I
V/N 0.9098 likely_pathogenic 0.9123 pathogenic -1.79 Destabilizing 0.993 D 0.749 deleterious None None None None I
V/P 0.9913 likely_pathogenic 0.9923 pathogenic -1.188 Destabilizing 0.993 D 0.717 prob.delet. None None None None I
V/Q 0.9303 likely_pathogenic 0.9275 pathogenic -1.794 Destabilizing 0.993 D 0.722 prob.delet. None None None None I
V/R 0.9196 likely_pathogenic 0.9191 pathogenic -1.339 Destabilizing 0.979 D 0.747 deleterious None None None None I
V/S 0.8576 likely_pathogenic 0.8655 pathogenic -2.385 Highly Destabilizing 0.979 D 0.717 prob.delet. None None None None I
V/T 0.7072 likely_pathogenic 0.681 pathogenic -2.135 Highly Destabilizing 0.87 D 0.627 neutral None None None None I
V/W 0.9933 likely_pathogenic 0.9929 pathogenic -1.686 Destabilizing 0.998 D 0.733 prob.delet. None None None None I
V/Y 0.9424 likely_pathogenic 0.939 pathogenic -1.356 Destabilizing 0.979 D 0.721 prob.delet. 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.