Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3307999460;99461;99462 chr2:178538594;178538593;178538592chr2:179403321;179403320;179403319
N2AB3143894537;94538;94539 chr2:178538594;178538593;178538592chr2:179403321;179403320;179403319
N2A3051191756;91757;91758 chr2:178538594;178538593;178538592chr2:179403321;179403320;179403319
N2B2401472265;72266;72267 chr2:178538594;178538593;178538592chr2:179403321;179403320;179403319
Novex-12413972640;72641;72642 chr2:178538594;178538593;178538592chr2:179403321;179403320;179403319
Novex-22420672841;72842;72843 chr2:178538594;178538593;178538592chr2:179403321;179403320;179403319
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: T
  • RefSeq wild type transcript codon: ACT
  • RefSeq wild type template codon: TGA
  • Domain: Fn3-129
  • Domain position: 82
  • Structural Position: 114
  • Q(SASA): 0.5824
  • 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
T/A rs1442558441 -0.336 0.02 N 0.288 0.126 0.139678290688 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
T/A rs1442558441 -0.336 0.02 N 0.288 0.126 0.139678290688 gnomAD-4.0.0 2.5627E-06 None None None None I None 0 0 None 0 0 None 0 0 4.78705E-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
T/A 0.0874 likely_benign 0.1007 benign -0.263 Destabilizing 0.02 N 0.288 neutral N 0.303202364 None None I
T/C 0.3777 ambiguous 0.4713 ambiguous -0.142 Destabilizing 0.998 D 0.631 neutral None None None None I
T/D 0.6244 likely_pathogenic 0.6761 pathogenic 0.085 Stabilizing 0.993 D 0.614 neutral None None None None I
T/E 0.5373 ambiguous 0.5802 pathogenic 0.004 Stabilizing 0.986 D 0.594 neutral None None None None I
T/F 0.3789 ambiguous 0.4356 ambiguous -0.827 Destabilizing 0.993 D 0.705 prob.neutral None None None None I
T/G 0.3199 likely_benign 0.3934 ambiguous -0.37 Destabilizing 0.91 D 0.633 neutral None None None None I
T/H 0.4688 ambiguous 0.532 ambiguous -0.603 Destabilizing 0.999 D 0.704 prob.neutral None None None None I
T/I 0.2357 likely_benign 0.2739 benign -0.101 Destabilizing 0.982 D 0.617 neutral N 0.37506525 None None I
T/K 0.4726 ambiguous 0.4869 ambiguous -0.282 Destabilizing 0.986 D 0.593 neutral None None None None I
T/L 0.1495 likely_benign 0.1797 benign -0.101 Destabilizing 0.91 D 0.56 neutral None None None None I
T/M 0.1034 likely_benign 0.1185 benign -0.004 Destabilizing 0.999 D 0.615 neutral None None None None I
T/N 0.1857 likely_benign 0.2235 benign 0.027 Stabilizing 0.991 D 0.597 neutral N 0.44546391 None None I
T/P 0.6077 likely_pathogenic 0.6865 pathogenic -0.128 Destabilizing 0.991 D 0.627 neutral N 0.511150185 None None I
T/Q 0.42 ambiguous 0.4701 ambiguous -0.195 Destabilizing 0.993 D 0.619 neutral None None None None I
T/R 0.4051 ambiguous 0.4111 ambiguous 0.005 Stabilizing 0.993 D 0.625 neutral None None None None I
T/S 0.1454 likely_benign 0.1817 benign -0.157 Destabilizing 0.885 D 0.475 neutral N 0.426147431 None None I
T/V 0.1551 likely_benign 0.1788 benign -0.128 Destabilizing 0.91 D 0.487 neutral None None None None I
T/W 0.7801 likely_pathogenic 0.8216 pathogenic -0.881 Destabilizing 0.999 D 0.759 deleterious None None None None I
T/Y 0.4613 ambiguous 0.5096 ambiguous -0.579 Destabilizing 0.998 D 0.705 prob.neutral 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.