Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC10243295;3296;3297 chr2:178782836;178782835;178782834chr2:179647563;179647562;179647561
N2AB10243295;3296;3297 chr2:178782836;178782835;178782834chr2:179647563;179647562;179647561
N2A10243295;3296;3297 chr2:178782836;178782835;178782834chr2:179647563;179647562;179647561
N2B9783157;3158;3159 chr2:178782836;178782835;178782834chr2:179647563;179647562;179647561
Novex-19783157;3158;3159 chr2:178782836;178782835;178782834chr2:179647563;179647562;179647561
Novex-29783157;3158;3159 chr2:178782836;178782835;178782834chr2:179647563;179647562;179647561
Novex-310243295;3296;3297 chr2:178782836;178782835;178782834chr2:179647563;179647562;179647561

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTC
  • RefSeq wild type template codon: CAG
  • Domain: Ig-3
  • Domain position: 82
  • Structural Position: 166
  • Q(SASA): 0.2607
  • 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
V/F None None 0.999 D 0.778 0.388 0.8544907614 gnomAD-4.0.0 6.84403E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99408E-07 0 0
V/G rs879097187 -1.16 0.999 N 0.83 0.674 None gnomAD-2.1.1 3.18E-05 None None None None I None 1.14758E-04 0 None 0 0 None 0 None 0 0 0
V/G rs879097187 -1.16 0.999 N 0.83 0.674 None gnomAD-4.0.0 1.3688E-06 None None None None I None 0 0 None 0 0 None 0 0 0 0 3.3151E-05
V/I rs368770038 -0.29 0.768 N 0.217 0.26 None gnomAD-2.1.1 3.99E-05 None None None None I None 6.15E-05 0 None 0 0 None 3.27E-05 None 0 7.08E-05 0
V/I rs368770038 -0.29 0.768 N 0.217 0.26 None gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 0 None 0 0 0 0 4.78011E-04
V/I rs368770038 -0.29 0.768 N 0.217 0.26 None gnomAD-4.0.0 2.54131E-05 None None None None I None 0 0 None 0 0 None 0 0 3.30543E-05 1.09823E-05 1.60179E-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
V/A 0.4539 ambiguous 0.5637 ambiguous -0.901 Destabilizing 0.978 D 0.49 neutral N 0.419768235 None None I
V/C 0.9602 likely_pathogenic 0.9733 pathogenic -0.858 Destabilizing 1.0 D 0.755 deleterious None None None None I
V/D 0.9415 likely_pathogenic 0.9686 pathogenic -0.169 Destabilizing 0.999 D 0.851 deleterious N 0.49853825 None None I
V/E 0.8583 likely_pathogenic 0.9128 pathogenic -0.223 Destabilizing 0.999 D 0.817 deleterious None None None None I
V/F 0.6497 likely_pathogenic 0.7558 pathogenic -0.833 Destabilizing 0.999 D 0.778 deleterious D 0.634719972 None None I
V/G 0.8065 likely_pathogenic 0.8798 pathogenic -1.134 Destabilizing 0.999 D 0.83 deleterious N 0.509258445 None None I
V/H 0.9739 likely_pathogenic 0.9855 pathogenic -0.665 Destabilizing 1.0 D 0.843 deleterious None None None None I
V/I 0.1077 likely_benign 0.1209 benign -0.402 Destabilizing 0.768 D 0.217 neutral N 0.505785461 None None I
V/K 0.9094 likely_pathogenic 0.9437 pathogenic -0.618 Destabilizing 0.999 D 0.819 deleterious None None None None I
V/L 0.5773 likely_pathogenic 0.6904 pathogenic -0.402 Destabilizing 0.958 D 0.473 neutral N 0.516435349 None None I
V/M 0.4003 ambiguous 0.5187 ambiguous -0.412 Destabilizing 0.998 D 0.735 prob.delet. None None None None I
V/N 0.8871 likely_pathogenic 0.932 pathogenic -0.379 Destabilizing 0.999 D 0.844 deleterious None None None None I
V/P 0.9961 likely_pathogenic 0.998 pathogenic -0.532 Destabilizing 0.999 D 0.841 deleterious None None None None I
V/Q 0.8682 likely_pathogenic 0.9137 pathogenic -0.562 Destabilizing 0.999 D 0.831 deleterious None None None None I
V/R 0.885 likely_pathogenic 0.9264 pathogenic -0.187 Destabilizing 0.999 D 0.843 deleterious None None None None I
V/S 0.7138 likely_pathogenic 0.801 pathogenic -0.932 Destabilizing 0.999 D 0.814 deleterious None None None None I
V/T 0.5045 ambiguous 0.5975 pathogenic -0.869 Destabilizing 0.992 D 0.642 neutral None None None None I
V/W 0.9936 likely_pathogenic 0.9965 pathogenic -0.917 Destabilizing 1.0 D 0.821 deleterious None None None None I
V/Y 0.958 likely_pathogenic 0.9739 pathogenic -0.608 Destabilizing 0.999 D 0.795 deleterious 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.