Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3066992230;92231;92232 chr2:178549717;178549716;178549715chr2:179414444;179414443;179414442
N2AB2902887307;87308;87309 chr2:178549717;178549716;178549715chr2:179414444;179414443;179414442
N2A2810184526;84527;84528 chr2:178549717;178549716;178549715chr2:179414444;179414443;179414442
N2B2160465035;65036;65037 chr2:178549717;178549716;178549715chr2:179414444;179414443;179414442
Novex-12172965410;65411;65412 chr2:178549717;178549716;178549715chr2:179414444;179414443;179414442
Novex-22179665611;65612;65613 chr2:178549717;178549716;178549715chr2:179414444;179414443;179414442
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: L
  • RefSeq wild type transcript codon: CTA
  • RefSeq wild type template codon: GAT
  • Domain: Fn3-111
  • Domain position: 51
  • Structural Position: 67
  • Q(SASA): 0.3365
  • 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
L/I rs1469812071 None 0.999 N 0.463 0.203 0.417334834585 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
L/I rs1469812071 None 0.999 N 0.463 0.203 0.417334834585 gnomAD-4.0.0 6.57307E-06 None None None None I None 0 0 None 0 0 None 0 0 1.47003E-05 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
L/A 0.2587 likely_benign 0.2692 benign -1.268 Destabilizing 0.999 D 0.712 prob.delet. None None None None I
L/C 0.4814 ambiguous 0.4876 ambiguous -0.743 Destabilizing 1.0 D 0.693 prob.neutral None None None None I
L/D 0.8006 likely_pathogenic 0.8253 pathogenic -0.874 Destabilizing 1.0 D 0.784 deleterious None None None None I
L/E 0.4318 ambiguous 0.4622 ambiguous -0.92 Destabilizing 1.0 D 0.799 deleterious None None None None I
L/F 0.1986 likely_benign 0.2331 benign -0.963 Destabilizing 1.0 D 0.7 prob.neutral None None None None I
L/G 0.6031 likely_pathogenic 0.6184 pathogenic -1.525 Destabilizing 1.0 D 0.807 deleterious None None None None I
L/H 0.2779 likely_benign 0.3079 benign -0.725 Destabilizing 1.0 D 0.741 deleterious None None None None I
L/I 0.0862 likely_benign 0.0946 benign -0.667 Destabilizing 0.999 D 0.463 neutral N 0.425069995 None None I
L/K 0.2374 likely_benign 0.245 benign -0.927 Destabilizing 1.0 D 0.788 deleterious None None None None I
L/M 0.0986 likely_benign 0.0988 benign -0.512 Destabilizing 1.0 D 0.64 neutral None None None None I
L/N 0.3913 ambiguous 0.4106 ambiguous -0.701 Destabilizing 1.0 D 0.789 deleterious None None None None I
L/P 0.327 likely_benign 0.3579 ambiguous -0.835 Destabilizing 1.0 D 0.79 deleterious N 0.447445423 None None I
L/Q 0.1466 likely_benign 0.1539 benign -0.929 Destabilizing 1.0 D 0.773 deleterious N 0.456718267 None None I
L/R 0.2007 likely_benign 0.2104 benign -0.261 Destabilizing 1.0 D 0.791 deleterious N 0.468127339 None None I
L/S 0.3402 ambiguous 0.376 ambiguous -1.199 Destabilizing 1.0 D 0.798 deleterious None None None None I
L/T 0.223 likely_benign 0.224 benign -1.138 Destabilizing 1.0 D 0.803 deleterious None None None None I
L/V 0.0782 likely_benign 0.0832 benign -0.835 Destabilizing 0.999 D 0.528 neutral N 0.402307779 None None I
L/W 0.4155 ambiguous 0.4763 ambiguous -1.008 Destabilizing 1.0 D 0.722 prob.delet. None None None None I
L/Y 0.4656 ambiguous 0.4917 ambiguous -0.795 Destabilizing 1.0 D 0.778 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.