Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC34371103336;103337;103338 chr2:178533504;178533503;178533502chr2:179398231;179398230;179398229
N2AB3273098413;98414;98415 chr2:178533504;178533503;178533502chr2:179398231;179398230;179398229
N2A3180395632;95633;95634 chr2:178533504;178533503;178533502chr2:179398231;179398230;179398229
N2B2530676141;76142;76143 chr2:178533504;178533503;178533502chr2:179398231;179398230;179398229
Novex-12543176516;76517;76518 chr2:178533504;178533503;178533502chr2:179398231;179398230;179398229
Novex-22549876717;76718;76719 chr2:178533504;178533503;178533502chr2:179398231;179398230;179398229
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: N
  • RefSeq wild type transcript codon: AAT
  • RefSeq wild type template codon: TTA
  • Domain: Ig-162
  • Domain position: 9
  • Structural Position: 11
  • Q(SASA): 0.6548
  • 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
N/H None None 0.999 N 0.628 0.661 0.401185642668 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
N/S None None 0.977 N 0.429 0.451 0.243972157842 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-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
N/A 0.8113 likely_pathogenic 0.7369 pathogenic -0.328 Destabilizing 0.966 D 0.549 neutral None None None None N
N/C 0.9051 likely_pathogenic 0.8692 pathogenic 0.367 Stabilizing 1.0 D 0.751 deleterious None None None None N
N/D 0.4596 ambiguous 0.4147 ambiguous 0.168 Stabilizing 0.989 D 0.489 neutral N 0.430433822 None None N
N/E 0.9385 likely_pathogenic 0.9121 pathogenic 0.147 Stabilizing 0.998 D 0.568 neutral None None None None N
N/F 0.9832 likely_pathogenic 0.9719 pathogenic -0.631 Destabilizing 1.0 D 0.733 prob.delet. None None None None N
N/G 0.776 likely_pathogenic 0.703 pathogenic -0.519 Destabilizing 0.15 N 0.207 neutral None None None None N
N/H 0.6563 likely_pathogenic 0.542 ambiguous -0.519 Destabilizing 0.999 D 0.628 neutral N 0.497260715 None None N
N/I 0.948 likely_pathogenic 0.9132 pathogenic 0.095 Stabilizing 0.999 D 0.755 deleterious N 0.50104615 None None N
N/K 0.9512 likely_pathogenic 0.9231 pathogenic 0.068 Stabilizing 0.997 D 0.592 neutral N 0.502425275 None None N
N/L 0.9134 likely_pathogenic 0.8698 pathogenic 0.095 Stabilizing 0.998 D 0.721 prob.delet. None None None None N
N/M 0.9481 likely_pathogenic 0.9186 pathogenic 0.316 Stabilizing 1.0 D 0.71 prob.delet. None None None None N
N/P 0.8244 likely_pathogenic 0.7835 pathogenic -0.019 Destabilizing 0.999 D 0.724 prob.delet. None None None None N
N/Q 0.9302 likely_pathogenic 0.8961 pathogenic -0.253 Destabilizing 0.999 D 0.636 neutral None None None None N
N/R 0.9408 likely_pathogenic 0.9078 pathogenic 0.09 Stabilizing 0.998 D 0.633 neutral None None None None N
N/S 0.202 likely_benign 0.1662 benign -0.092 Destabilizing 0.977 D 0.429 neutral N 0.492695789 None None N
N/T 0.6396 likely_pathogenic 0.5385 ambiguous 0.033 Stabilizing 0.989 D 0.569 neutral D 0.524693564 None None N
N/V 0.9063 likely_pathogenic 0.8569 pathogenic -0.019 Destabilizing 0.998 D 0.743 deleterious None None None None N
N/W 0.9937 likely_pathogenic 0.9894 pathogenic -0.625 Destabilizing 1.0 D 0.721 prob.delet. None None None None N
N/Y 0.8678 likely_pathogenic 0.8066 pathogenic -0.361 Destabilizing 0.999 D 0.731 prob.delet. D 0.52401225 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.