Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2179765614;65615;65616 chr2:178583793;178583792;178583791chr2:179448520;179448519;179448518
N2AB2015660691;60692;60693 chr2:178583793;178583792;178583791chr2:179448520;179448519;179448518
N2A1922957910;57911;57912 chr2:178583793;178583792;178583791chr2:179448520;179448519;179448518
N2B1273238419;38420;38421 chr2:178583793;178583792;178583791chr2:179448520;179448519;179448518
Novex-11285738794;38795;38796 chr2:178583793;178583792;178583791chr2:179448520;179448519;179448518
Novex-21292438995;38996;38997 chr2:178583793;178583792;178583791chr2:179448520;179448519;179448518
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: C
  • RefSeq wild type transcript codon: TGC
  • RefSeq wild type template codon: ACG
  • Domain: Fn3-46
  • Domain position: 41
  • Structural Position: 43
  • Q(SASA): 0.0723
  • 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
C/F rs886042894 None 0.863 N 0.747 0.279 0.727300299738 gnomAD-4.0.0 4.80084E-06 None None None None N None 0 0 None 0 0 None 0 0 5.40467E-06 0 1.66118E-05
C/G rs375830234 -1.928 0.002 N 0.627 0.273 None gnomAD-2.1.1 6.17E-05 None None None None N None 6.66E-05 0 None 0 0 None 0 None 0 1.2756E-04 0
C/G rs375830234 -1.928 0.002 N 0.627 0.273 None gnomAD-3.1.2 5.92E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 1.0295E-04 0 0
C/G rs375830234 -1.928 0.002 N 0.627 0.273 None gnomAD-4.0.0 5.15397E-05 None None None None N None 2.67201E-05 0 None 0 0 None 0 0 6.78957E-05 0 1.60488E-05
C/Y rs886042894 None 0.975 N 0.727 0.32 0.637172401323 gnomAD-4.0.0 2.0575E-06 None None None None N None 0 4.50796E-05 None 0 0 None 0 0 0 0 1.66118E-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
C/A 0.4212 ambiguous 0.4086 ambiguous -1.34 Destabilizing 0.176 N 0.413 neutral None None None None N
C/D 0.8932 likely_pathogenic 0.8667 pathogenic -0.943 Destabilizing 0.704 D 0.72 prob.delet. None None None None N
C/E 0.802 likely_pathogenic 0.7796 pathogenic -0.712 Destabilizing 0.704 D 0.72 prob.delet. None None None None N
C/F 0.2636 likely_benign 0.2044 benign -0.801 Destabilizing 0.863 D 0.747 deleterious N 0.428032943 None None N
C/G 0.2986 likely_benign 0.2698 benign -1.687 Destabilizing 0.002 N 0.627 neutral N 0.474728025 None None N
C/H 0.4677 ambiguous 0.3785 ambiguous -1.906 Destabilizing 0.981 D 0.695 prob.neutral None None None None N
C/I 0.6233 likely_pathogenic 0.5676 pathogenic -0.402 Destabilizing 0.543 D 0.681 prob.neutral None None None None N
C/K 0.5586 ambiguous 0.4958 ambiguous -0.536 Destabilizing 0.543 D 0.684 prob.neutral None None None None N
C/L 0.3857 ambiguous 0.3279 benign -0.402 Destabilizing 0.003 N 0.443 neutral None None None None N
C/M 0.5476 ambiguous 0.5038 ambiguous 0.259 Stabilizing 0.893 D 0.715 prob.delet. None None None None N
C/N 0.6361 likely_pathogenic 0.5848 pathogenic -1.109 Destabilizing 0.704 D 0.719 prob.delet. None None None None N
C/P 0.9941 likely_pathogenic 0.9934 pathogenic -0.693 Destabilizing 0.936 D 0.765 deleterious None None None None N
C/Q 0.3789 ambiguous 0.3398 benign -0.632 Destabilizing 0.893 D 0.752 deleterious None None None None N
C/R 0.2148 likely_benign 0.1797 benign -1.068 Destabilizing 0.006 N 0.639 neutral N 0.353975114 None None N
C/S 0.3819 ambiguous 0.3372 benign -1.393 Destabilizing 0.27 N 0.623 neutral N 0.444634404 None None N
C/T 0.5825 likely_pathogenic 0.547 ambiguous -0.977 Destabilizing 0.013 N 0.428 neutral None None None None N
C/V 0.479 ambiguous 0.4457 ambiguous -0.693 Destabilizing 0.329 N 0.621 neutral None None None None N
C/W 0.6055 likely_pathogenic 0.4947 ambiguous -1.179 Destabilizing 0.993 D 0.682 prob.neutral N 0.466223185 None None N
C/Y 0.3236 likely_benign 0.2397 benign -0.938 Destabilizing 0.975 D 0.727 prob.delet. N 0.460817365 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.