Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1637849357;49358;49359 chr2:178614265;178614264;178614263chr2:179478992;179478991;179478990
N2AB1473744434;44435;44436 chr2:178614265;178614264;178614263chr2:179478992;179478991;179478990
N2A1381041653;41654;41655 chr2:178614265;178614264;178614263chr2:179478992;179478991;179478990
N2B731322162;22163;22164 chr2:178614265;178614264;178614263chr2:179478992;179478991;179478990
Novex-1743822537;22538;22539 chr2:178614265;178614264;178614263chr2:179478992;179478991;179478990
Novex-2750522738;22739;22740 chr2:178614265;178614264;178614263chr2:179478992;179478991;179478990
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: D
  • RefSeq wild type transcript codon: GAT
  • RefSeq wild type template codon: CTA
  • Domain: Fn3-6
  • Domain position: 28
  • Structural Position: 30
  • Q(SASA): 0.481
  • 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
D/N rs376610251 None 1.0 D 0.703 0.41 0.441017621159 gnomAD-3.1.2 1.32E-05 None None None None N None 0 6.56E-05 0 0 0 None 0 0 1.47E-05 0 0
D/N rs376610251 None 1.0 D 0.703 0.41 0.441017621159 gnomAD-4.0.0 3.72079E-06 None None None None N None 0 1.67001E-05 None 0 0 None 0 0 4.23995E-06 0 0
D/Y None None 1.0 D 0.627 0.476 0.814622373605 gnomAD-4.0.0 6.84615E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15969E-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
D/A 0.9214 likely_pathogenic 0.8929 pathogenic -0.299 Destabilizing 1.0 D 0.715 prob.delet. D 0.575458486 None None N
D/C 0.9869 likely_pathogenic 0.9774 pathogenic 0.165 Stabilizing 1.0 D 0.649 neutral None None None None N
D/E 0.9323 likely_pathogenic 0.8881 pathogenic -0.623 Destabilizing 1.0 D 0.439 neutral D 0.619861944 None None N
D/F 0.9916 likely_pathogenic 0.985 pathogenic -0.525 Destabilizing 1.0 D 0.644 neutral None None None None N
D/G 0.9028 likely_pathogenic 0.8648 pathogenic -0.546 Destabilizing 1.0 D 0.7 prob.neutral D 0.700817209 None None N
D/H 0.9632 likely_pathogenic 0.9326 pathogenic -0.853 Destabilizing 1.0 D 0.655 neutral D 0.674292603 None None N
D/I 0.9831 likely_pathogenic 0.9663 pathogenic 0.314 Stabilizing 1.0 D 0.675 neutral None None None None N
D/K 0.9859 likely_pathogenic 0.9733 pathogenic 0.146 Stabilizing 1.0 D 0.741 deleterious None None None None N
D/L 0.9802 likely_pathogenic 0.9643 pathogenic 0.314 Stabilizing 1.0 D 0.692 prob.neutral None None None None N
D/M 0.9916 likely_pathogenic 0.9834 pathogenic 0.769 Stabilizing 1.0 D 0.638 neutral None None None None N
D/N 0.3124 likely_benign 0.2527 benign -0.134 Destabilizing 1.0 D 0.703 prob.neutral D 0.552962453 None None N
D/P 0.9931 likely_pathogenic 0.9879 pathogenic 0.133 Stabilizing 1.0 D 0.743 deleterious None None None None N
D/Q 0.983 likely_pathogenic 0.9674 pathogenic -0.082 Destabilizing 1.0 D 0.745 deleterious None None None None N
D/R 0.9867 likely_pathogenic 0.9758 pathogenic 0.049 Stabilizing 1.0 D 0.701 prob.neutral None None None None N
D/S 0.6668 likely_pathogenic 0.5869 pathogenic -0.269 Destabilizing 1.0 D 0.715 prob.delet. None None None None N
D/T 0.8315 likely_pathogenic 0.7612 pathogenic -0.07 Destabilizing 1.0 D 0.751 deleterious None None None None N
D/V 0.9569 likely_pathogenic 0.9235 pathogenic 0.133 Stabilizing 1.0 D 0.695 prob.neutral D 0.698962755 None None N
D/W 0.9986 likely_pathogenic 0.9974 pathogenic -0.507 Destabilizing 1.0 D 0.646 neutral None None None None N
D/Y 0.9474 likely_pathogenic 0.9056 pathogenic -0.309 Destabilizing 1.0 D 0.627 neutral D 0.747774229 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.