Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC22416946;6947;6948 chr2:178774990;178774989;178774988chr2:179639717;179639716;179639715
N2AB22416946;6947;6948 chr2:178774990;178774989;178774988chr2:179639717;179639716;179639715
N2A22416946;6947;6948 chr2:178774990;178774989;178774988chr2:179639717;179639716;179639715
N2B21956808;6809;6810 chr2:178774990;178774989;178774988chr2:179639717;179639716;179639715
Novex-121956808;6809;6810 chr2:178774990;178774989;178774988chr2:179639717;179639716;179639715
Novex-221956808;6809;6810 chr2:178774990;178774989;178774988chr2:179639717;179639716;179639715
Novex-322416946;6947;6948 chr2:178774990;178774989;178774988chr2:179639717;179639716;179639715

Information

  • RefSeq wild type amino acid: A
  • RefSeq wild type transcript codon: GCT
  • RefSeq wild type template codon: CGA
  • Domain: Ig-11
  • Domain position: 68
  • Structural Position: 151
  • Q(SASA): 0.2263
  • 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
A/D None None 0.005 N 0.284 0.292 0.492749560936 gnomAD-4.0.0 1.59088E-06 None None None None N None 0 2.28697E-05 None 0 0 None 0 0 0 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
A/C 0.4822 ambiguous 0.4344 ambiguous -0.98 Destabilizing 0.998 D 0.469 neutral None None None None N
A/D 0.2946 likely_benign 0.293 benign -1.065 Destabilizing 0.005 N 0.284 neutral N 0.505214838 None None N
A/E 0.1703 likely_benign 0.1763 benign -1.135 Destabilizing 0.007 N 0.204 neutral None None None None N
A/F 0.3556 ambiguous 0.3439 ambiguous -1.084 Destabilizing 0.991 D 0.594 neutral None None None None N
A/G 0.1266 likely_benign 0.1265 benign -1.078 Destabilizing 0.625 D 0.497 neutral N 0.504746739 None None N
A/H 0.4839 ambiguous 0.4671 ambiguous -1.171 Destabilizing 0.974 D 0.581 neutral None None None None N
A/I 0.235 likely_benign 0.2184 benign -0.472 Destabilizing 0.974 D 0.53 neutral None None None None N
A/K 0.2772 likely_benign 0.2774 benign -1.222 Destabilizing 0.728 D 0.483 neutral None None None None N
A/L 0.1793 likely_benign 0.1769 benign -0.472 Destabilizing 0.842 D 0.479 neutral None None None None N
A/M 0.1911 likely_benign 0.1753 benign -0.384 Destabilizing 0.998 D 0.509 neutral None None None None N
A/N 0.2455 likely_benign 0.2379 benign -0.91 Destabilizing 0.842 D 0.533 neutral None None None None N
A/P 0.62 likely_pathogenic 0.637 pathogenic -0.564 Destabilizing 0.966 D 0.509 neutral D 0.677136837 None None N
A/Q 0.2604 likely_benign 0.2566 benign -1.124 Destabilizing 0.904 D 0.499 neutral None None None None N
A/R 0.2495 likely_benign 0.2517 benign -0.79 Destabilizing 0.949 D 0.515 neutral None None None None N
A/S 0.0851 likely_benign 0.0838 benign -1.238 Destabilizing 0.625 D 0.533 neutral N 0.504170429 None None N
A/T 0.082 likely_benign 0.0784 benign -1.219 Destabilizing 0.801 D 0.461 neutral N 0.51334847 None None N
A/V 0.1371 likely_benign 0.1315 benign -0.564 Destabilizing 0.891 D 0.465 neutral N 0.504524326 None None N
A/W 0.7588 likely_pathogenic 0.7408 pathogenic -1.343 Destabilizing 0.998 D 0.659 neutral None None None None N
A/Y 0.4867 ambiguous 0.4683 ambiguous -0.978 Destabilizing 0.991 D 0.594 neutral None None 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.