Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC9913196;3197;3198 chr2:178782935;178782934;178782933chr2:179647662;179647661;179647660
N2AB9913196;3197;3198 chr2:178782935;178782934;178782933chr2:179647662;179647661;179647660
N2A9913196;3197;3198 chr2:178782935;178782934;178782933chr2:179647662;179647661;179647660
N2B9453058;3059;3060 chr2:178782935;178782934;178782933chr2:179647662;179647661;179647660
Novex-19453058;3059;3060 chr2:178782935;178782934;178782933chr2:179647662;179647661;179647660
Novex-29453058;3059;3060 chr2:178782935;178782934;178782933chr2:179647662;179647661;179647660
Novex-39913196;3197;3198 chr2:178782935;178782934;178782933chr2:179647662;179647661;179647660

Information

  • RefSeq wild type amino acid: I
  • RefSeq wild type transcript codon: ATA
  • RefSeq wild type template codon: TAT
  • Domain: Ig-3
  • Domain position: 49
  • Structural Position: 123
  • Q(SASA): 0.1961
  • 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
I/M None None 0.075 D 0.4 0.358 0.394230963961 gnomAD-4.0.0 2.40064E-06 None None None None I None 0 0 None 0 0 None 0 0 2.625E-06 0 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
I/A 0.952 likely_pathogenic 0.9593 pathogenic -1.948 Destabilizing 0.415 N 0.538 neutral None None None None I
I/C 0.9699 likely_pathogenic 0.9739 pathogenic -1.254 Destabilizing 0.996 D 0.609 neutral None None None None I
I/D 0.9923 likely_pathogenic 0.9938 pathogenic -1.261 Destabilizing 0.961 D 0.705 prob.neutral None None None None I
I/E 0.972 likely_pathogenic 0.9761 pathogenic -1.182 Destabilizing 0.961 D 0.705 prob.neutral None None None None I
I/F 0.6148 likely_pathogenic 0.6334 pathogenic -1.275 Destabilizing 0.923 D 0.503 neutral None None None None I
I/G 0.9893 likely_pathogenic 0.9914 pathogenic -2.363 Highly Destabilizing 0.961 D 0.682 prob.neutral None None None None I
I/H 0.966 likely_pathogenic 0.9735 pathogenic -1.615 Destabilizing 0.996 D 0.727 prob.delet. None None None None I
I/K 0.895 likely_pathogenic 0.9137 pathogenic -1.304 Destabilizing 0.901 D 0.687 prob.neutral D 0.606420224 None None I
I/L 0.3877 ambiguous 0.4057 ambiguous -0.839 Destabilizing 0.075 N 0.361 neutral N 0.49834967 None None I
I/M 0.218 likely_benign 0.2348 benign -0.693 Destabilizing 0.075 N 0.4 neutral D 0.548498496 None None I
I/N 0.9067 likely_pathogenic 0.9199 pathogenic -1.225 Destabilizing 0.961 D 0.717 prob.delet. None None None None I
I/P 0.9906 likely_pathogenic 0.9926 pathogenic -1.179 Destabilizing 0.987 D 0.723 prob.delet. None None None None I
I/Q 0.9319 likely_pathogenic 0.9455 pathogenic -1.284 Destabilizing 0.961 D 0.733 prob.delet. None None None None I
I/R 0.8918 likely_pathogenic 0.9135 pathogenic -0.851 Destabilizing 0.901 D 0.724 prob.delet. D 0.565203256 None None I
I/S 0.9477 likely_pathogenic 0.9568 pathogenic -1.951 Destabilizing 0.633 D 0.625 neutral None None None None I
I/T 0.9131 likely_pathogenic 0.919 pathogenic -1.734 Destabilizing 0.034 N 0.367 neutral D 0.546292518 None None I
I/V 0.247 likely_benign 0.2488 benign -1.179 Destabilizing 0.19 N 0.389 neutral N 0.50421009 None None I
I/W 0.9779 likely_pathogenic 0.9827 pathogenic -1.413 Destabilizing 0.996 D 0.75 deleterious None None None None I
I/Y 0.9114 likely_pathogenic 0.9211 pathogenic -1.165 Destabilizing 0.961 D 0.617 neutral 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.