Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2273968440;68441;68442 chr2:178578815;178578814;178578813chr2:179443542;179443541;179443540
N2AB2109863517;63518;63519 chr2:178578815;178578814;178578813chr2:179443542;179443541;179443540
N2A2017160736;60737;60738 chr2:178578815;178578814;178578813chr2:179443542;179443541;179443540
N2B1367441245;41246;41247 chr2:178578815;178578814;178578813chr2:179443542;179443541;179443540
Novex-11379941620;41621;41622 chr2:178578815;178578814;178578813chr2:179443542;179443541;179443540
Novex-21386641821;41822;41823 chr2:178578815;178578814;178578813chr2:179443542;179443541;179443540
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: H
  • RefSeq wild type transcript codon: CAT
  • RefSeq wild type template codon: GTA
  • Domain: Fn3-52
  • Domain position: 97
  • Structural Position: 132
  • Q(SASA): 1.2758
  • 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
H/R rs1170829810 -0.118 0.938 N 0.678 0.282 0.247872288689 gnomAD-2.1.1 4.05E-06 None None None None I None 0 0 None 0 0 None 3.34E-05 None 0 0 0
H/R rs1170829810 -0.118 0.938 N 0.678 0.282 0.247872288689 gnomAD-4.0.0 1.6001E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.44559E-05 0
H/Y rs993803663 None 0.007 N 0.347 0.226 0.208816687407 gnomAD-3.1.2 2.63E-05 None None None None I None 2.42E-05 0 0 0 0 None 0 6.32911E-03 0 0 4.79846E-04
H/Y rs993803663 None 0.007 N 0.347 0.226 0.208816687407 gnomAD-4.0.0 8.07374E-06 None None None None I None 1.33661E-05 0 None 0 0 None 0 1.49254E-03 0 0 4.81386E-05

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
H/A 0.9187 likely_pathogenic 0.9252 pathogenic 0.589 Stabilizing 0.74 D 0.576 neutral None None None None I
H/C 0.6447 likely_pathogenic 0.6869 pathogenic 0.915 Stabilizing 0.996 D 0.838 deleterious None None None None I
H/D 0.8605 likely_pathogenic 0.7756 pathogenic 0.014 Stabilizing 0.979 D 0.661 prob.neutral N 0.443863613 None None I
H/E 0.9441 likely_pathogenic 0.942 pathogenic 0.029 Stabilizing 0.852 D 0.68 prob.neutral None None None None I
H/F 0.5226 ambiguous 0.5972 pathogenic 1.171 Stabilizing 0.833 D 0.651 prob.neutral None None None None I
H/G 0.9373 likely_pathogenic 0.9343 pathogenic 0.329 Stabilizing 0.852 D 0.516 neutral None None None None I
H/I 0.8875 likely_pathogenic 0.9014 pathogenic 1.239 Stabilizing 0.909 D 0.77 deleterious None None None None I
H/K 0.9463 likely_pathogenic 0.9562 pathogenic 0.546 Stabilizing 0.953 D 0.649 prob.neutral None None None None I
H/L 0.3919 ambiguous 0.4477 ambiguous 1.239 Stabilizing 0.518 D 0.59 neutral N 0.49544444 None None I
H/M 0.8721 likely_pathogenic 0.8847 pathogenic 0.917 Stabilizing 0.996 D 0.695 prob.delet. None None None None I
H/N 0.4978 ambiguous 0.4242 ambiguous 0.515 Stabilizing 0.813 D 0.68 prob.neutral N 0.442151459 None None I
H/P 0.5164 ambiguous 0.6056 pathogenic 1.048 Stabilizing 0.979 D 0.725 deleterious N 0.518302657 None None I
H/Q 0.8926 likely_pathogenic 0.8971 pathogenic 0.591 Stabilizing 0.938 D 0.667 prob.neutral N 0.507875019 None None I
H/R 0.8791 likely_pathogenic 0.9142 pathogenic -0.054 Destabilizing 0.938 D 0.678 prob.neutral N 0.507528302 None None I
H/S 0.8128 likely_pathogenic 0.7631 pathogenic 0.663 Stabilizing 0.852 D 0.653 prob.neutral None None None None I
H/T 0.9297 likely_pathogenic 0.9236 pathogenic 0.774 Stabilizing 0.953 D 0.591 neutral None None None None I
H/V 0.8916 likely_pathogenic 0.9118 pathogenic 1.048 Stabilizing 0.909 D 0.629 neutral None None None None I
H/W 0.6776 likely_pathogenic 0.7303 pathogenic 1.088 Stabilizing 0.987 D 0.713 prob.delet. None None None None I
H/Y 0.1737 likely_benign 0.2291 benign 1.389 Stabilizing 0.007 N 0.347 neutral N 0.444132972 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.