Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC384811767;11768;11769 chr2:178741691;178741690;178741689chr2:179606418;179606417;179606416
N2AB353110816;10817;10818 chr2:178741691;178741690;178741689chr2:179606418;179606417;179606416
N2ANoneNone chr2:Nonechr2:None
N2B348510678;10679;10680 chr2:178741691;178741690;178741689chr2:179606418;179606417;179606416
Novex-1361011053;11054;11055 chr2:178741691;178741690;178741689chr2:179606418;179606417;179606416
Novex-2367711254;11255;11256 chr2:178741691;178741690;178741689chr2:179606418;179606417;179606416
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: K
  • RefSeq wild type transcript codon: AAA
  • RefSeq wild type template codon: TTT
  • Domain: Ig-27
  • Domain position: 29
  • Structural Position: 43
  • Q(SASA): 0.5628
  • 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
K/E None None 0.22 N 0.604 0.172 None gnomAD-4.0.0 6.84212E-07 None None None None I None 2.98793E-05 0 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
K/A 0.3444 ambiguous 0.319 benign -0.069 Destabilizing 0.072 N 0.641 neutral None None None None I
K/C 0.7746 likely_pathogenic 0.7721 pathogenic -0.168 Destabilizing 0.909 D 0.713 prob.delet. None None None None I
K/D 0.6526 likely_pathogenic 0.6132 pathogenic -0.002 Destabilizing 0.567 D 0.609 neutral None None None None I
K/E 0.1876 likely_benign 0.1722 benign 0.052 Stabilizing 0.22 N 0.604 neutral N 0.478970233 None None I
K/F 0.7402 likely_pathogenic 0.7161 pathogenic 0.016 Stabilizing 0.726 D 0.71 prob.delet. None None None None I
K/G 0.5833 likely_pathogenic 0.5572 ambiguous -0.349 Destabilizing 0.272 N 0.647 neutral None None None None I
K/H 0.4265 ambiguous 0.3893 ambiguous -0.647 Destabilizing 0.968 D 0.628 neutral None None None None I
K/I 0.3069 likely_benign 0.2894 benign 0.614 Stabilizing 0.124 N 0.665 neutral N 0.516386 None None I
K/L 0.3329 likely_benign 0.3211 benign 0.614 Stabilizing 0.157 N 0.654 neutral None None None None I
K/M 0.2375 likely_benign 0.2246 benign 0.27 Stabilizing 0.726 D 0.623 neutral None None None None I
K/N 0.4493 ambiguous 0.4042 ambiguous 0.036 Stabilizing 0.497 N 0.565 neutral N 0.512483151 None None I
K/P 0.578 likely_pathogenic 0.5746 pathogenic 0.416 Stabilizing 0.726 D 0.641 neutral None None None None I
K/Q 0.1773 likely_benign 0.1598 benign -0.042 Destabilizing 0.667 D 0.625 neutral N 0.503072274 None None I
K/R 0.0971 likely_benign 0.095 benign -0.291 Destabilizing 0.22 N 0.564 neutral N 0.49457471 None None I
K/S 0.4452 ambiguous 0.4031 ambiguous -0.427 Destabilizing 0.157 N 0.583 neutral None None None None I
K/T 0.1898 likely_benign 0.1749 benign -0.203 Destabilizing 0.001 N 0.293 neutral N 0.499498278 None None I
K/V 0.3238 likely_benign 0.303 benign 0.416 Stabilizing 0.005 N 0.437 neutral None None None None I
K/W 0.8381 likely_pathogenic 0.8209 pathogenic 0.006 Stabilizing 0.968 D 0.748 deleterious None None None None I
K/Y 0.6131 likely_pathogenic 0.5945 pathogenic 0.314 Stabilizing 0.726 D 0.701 prob.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.