Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2537276339;76340;76341 chr2:178570018;178570017;178570016chr2:179434745;179434744;179434743
N2AB2373171416;71417;71418 chr2:178570018;178570017;178570016chr2:179434745;179434744;179434743
N2A2280468635;68636;68637 chr2:178570018;178570017;178570016chr2:179434745;179434744;179434743
N2B1630749144;49145;49146 chr2:178570018;178570017;178570016chr2:179434745;179434744;179434743
Novex-11643249519;49520;49521 chr2:178570018;178570017;178570016chr2:179434745;179434744;179434743
Novex-21649949720;49721;49722 chr2:178570018;178570017;178570016chr2:179434745;179434744;179434743
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: N
  • RefSeq wild type transcript codon: AAT
  • RefSeq wild type template codon: TTA
  • Domain: Fn3-72
  • Domain position: 69
  • Structural Position: 100
  • Q(SASA): 0.6203
  • Predicted PPI site: N

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
N/S None None 0.028 N 0.269 0.091 0.154104182512 gnomAD-4.0.0 1.36893E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99666E-07 1.1599E-05 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
N/A 0.2525 likely_benign 0.2647 benign -0.525 Destabilizing 0.373 N 0.523 neutral None None None None N
N/C 0.276 likely_benign 0.3011 benign 0.409 Stabilizing 0.996 D 0.587 neutral None None None None N
N/D 0.112 likely_benign 0.106 benign -0.36 Destabilizing 0.684 D 0.379 neutral N 0.423549843 None None N
N/E 0.3401 ambiguous 0.3306 benign -0.35 Destabilizing 0.742 D 0.405 neutral None None None None N
N/F 0.469 ambiguous 0.4904 ambiguous -0.58 Destabilizing 0.91 D 0.593 neutral None None None None N
N/G 0.1586 likely_benign 0.1639 benign -0.78 Destabilizing 0.004 N 0.169 neutral None None None None N
N/H 0.1093 likely_benign 0.1039 benign -0.81 Destabilizing 0.979 D 0.432 neutral N 0.515651927 None None N
N/I 0.413 ambiguous 0.427 ambiguous 0.087 Stabilizing 0.792 D 0.589 neutral N 0.50267945 None None N
N/K 0.2648 likely_benign 0.2404 benign -0.25 Destabilizing 0.684 D 0.405 neutral N 0.506397726 None None N
N/L 0.3266 likely_benign 0.3336 benign 0.087 Stabilizing 0.59 D 0.542 neutral None None None None N
N/M 0.3508 ambiguous 0.3637 ambiguous 0.595 Stabilizing 0.373 N 0.549 neutral None None None None N
N/P 0.8595 likely_pathogenic 0.854 pathogenic -0.089 Destabilizing 0.953 D 0.581 neutral None None None None N
N/Q 0.2847 likely_benign 0.2718 benign -0.618 Destabilizing 0.953 D 0.411 neutral None None None None N
N/R 0.3379 likely_benign 0.3261 benign -0.21 Destabilizing 0.91 D 0.409 neutral None None None None N
N/S 0.1008 likely_benign 0.1079 benign -0.429 Destabilizing 0.028 N 0.269 neutral N 0.47338123 None None N
N/T 0.1629 likely_benign 0.1723 benign -0.273 Destabilizing 0.521 D 0.343 neutral D 0.524330126 None None N
N/V 0.408 ambiguous 0.4247 ambiguous -0.089 Destabilizing 0.59 D 0.571 neutral None None None None N
N/W 0.7046 likely_pathogenic 0.7266 pathogenic -0.496 Destabilizing 0.996 D 0.667 neutral None None None None N
N/Y 0.1597 likely_benign 0.1669 benign -0.294 Destabilizing 0.979 D 0.582 neutral N 0.513670415 None None N

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.