Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2853685831;85832;85833 chr2:178560526;178560525;178560524chr2:179425253;179425252;179425251
N2AB2689580908;80909;80910 chr2:178560526;178560525;178560524chr2:179425253;179425252;179425251
N2A2596878127;78128;78129 chr2:178560526;178560525;178560524chr2:179425253;179425252;179425251
N2B1947158636;58637;58638 chr2:178560526;178560525;178560524chr2:179425253;179425252;179425251
Novex-11959659011;59012;59013 chr2:178560526;178560525;178560524chr2:179425253;179425252;179425251
Novex-21966359212;59213;59214 chr2:178560526;178560525;178560524chr2:179425253;179425252;179425251
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: P
  • RefSeq wild type transcript codon: CCC
  • RefSeq wild type template codon: GGG
  • Domain: Fn3-95
  • Domain position: 87
  • Structural Position: 120
  • Q(SASA): 0.306
  • 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
P/T rs1703229481 None 0.124 N 0.481 0.141 0.134241683229 gnomAD-3.1.2 1.32E-05 None None None None I None 4.83E-05 0 0 0 0 None 0 0 0 0 0
P/T rs1703229481 None 0.124 N 0.481 0.141 0.134241683229 gnomAD-4.0.0 3.84685E-06 None None None None I None 3.38662E-05 0 None 0 0 None 0 0 2.39412E-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
P/A 0.0713 likely_benign 0.0717 benign -1.506 Destabilizing None N 0.311 neutral N 0.505645577 None None I
P/C 0.3661 ambiguous 0.3896 ambiguous -0.899 Destabilizing 0.909 D 0.739 prob.delet. None None None None I
P/D 0.6265 likely_pathogenic 0.5656 pathogenic -1.502 Destabilizing 0.396 N 0.515 neutral None None None None I
P/E 0.4366 ambiguous 0.4206 ambiguous -1.531 Destabilizing 0.157 N 0.482 neutral None None None None I
P/F 0.4319 ambiguous 0.4334 ambiguous -1.197 Destabilizing 0.567 D 0.738 prob.delet. None None None None I
P/G 0.2807 likely_benign 0.2697 benign -1.789 Destabilizing 0.157 N 0.57 neutral None None None None I
P/H 0.2558 likely_benign 0.2558 benign -1.313 Destabilizing 0.005 N 0.538 neutral D 0.528137085 None None I
P/I 0.35 ambiguous 0.3471 ambiguous -0.835 Destabilizing 0.567 D 0.695 prob.neutral None None None None I
P/K 0.4458 ambiguous 0.4339 ambiguous -1.332 Destabilizing 0.157 N 0.496 neutral None None None None I
P/L 0.2179 likely_benign 0.2065 benign -0.835 Destabilizing 0.124 N 0.64 neutral D 0.52560219 None None I
P/M 0.3543 ambiguous 0.3622 ambiguous -0.596 Destabilizing 0.909 D 0.675 neutral None None None None I
P/N 0.4002 ambiguous 0.3994 ambiguous -1.035 Destabilizing 0.396 N 0.605 neutral None None None None I
P/Q 0.2793 likely_benign 0.267 benign -1.268 Destabilizing 0.567 D 0.562 neutral None None None None I
P/R 0.3493 ambiguous 0.318 benign -0.715 Destabilizing 0.497 N 0.633 neutral D 0.527123127 None None I
P/S 0.1135 likely_benign 0.1117 benign -1.475 Destabilizing 0.001 N 0.414 neutral N 0.508676477 None None I
P/T 0.134 likely_benign 0.1347 benign -1.411 Destabilizing 0.124 N 0.481 neutral N 0.509436946 None None I
P/V 0.2266 likely_benign 0.2326 benign -1.025 Destabilizing 0.157 N 0.581 neutral None None None None I
P/W 0.6017 likely_pathogenic 0.5699 pathogenic -1.349 Destabilizing 0.968 D 0.761 deleterious None None None None I
P/Y 0.3696 ambiguous 0.3776 ambiguous -1.106 Destabilizing 0.396 N 0.727 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.