Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC568717284;17285;17286 chr2:178731816;178731815;178731814chr2:179596543;179596542;179596541
N2AB537016333;16334;16335 chr2:178731816;178731815;178731814chr2:179596543;179596542;179596541
N2A444313552;13553;13554 chr2:178731816;178731815;178731814chr2:179596543;179596542;179596541
N2BNoneNone chr2:Nonechr2:None
Novex-1NoneNone chr2:Nonechr2:None
Novex-2NoneNone chr2:Nonechr2:None
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: I
  • RefSeq wild type transcript codon: ATT
  • RefSeq wild type template codon: TAA
  • Domain: Ig-40
  • Domain position: 51
  • Structural Position: 127
  • Q(SASA): 0.6751
  • 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/V None None None N 0.247 0.075 0.124217242631 gnomAD-4.0.0 1.20032E-06 None None None None I None 0 0 None 0 0 None 0 0 0 0 3.66327E-05

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 0.1787 likely_benign 0.2346 benign -0.806 Destabilizing 0.007 N 0.378 neutral None None None None I
I/C 0.3837 ambiguous 0.4777 ambiguous -0.782 Destabilizing 0.628 D 0.576 neutral None None None None I
I/D 0.4325 ambiguous 0.5436 ambiguous 0.016 Stabilizing 0.072 N 0.641 neutral None None None None I
I/E 0.3565 ambiguous 0.4556 ambiguous -0.023 Destabilizing 0.072 N 0.579 neutral None None None None I
I/F 0.0819 likely_benign 0.0941 benign -0.55 Destabilizing None N 0.297 neutral N 0.404284583 None None I
I/G 0.3663 ambiguous 0.4645 ambiguous -1.038 Destabilizing 0.072 N 0.581 neutral None None None None I
I/H 0.2209 likely_benign 0.2828 benign -0.3 Destabilizing 0.628 D 0.634 neutral None None None None I
I/K 0.2169 likely_benign 0.2847 benign -0.478 Destabilizing None N 0.439 neutral None None None None I
I/L 0.0617 likely_benign 0.0779 benign -0.292 Destabilizing None N 0.215 neutral N 0.395934459 None None I
I/M 0.0772 likely_benign 0.0909 benign -0.457 Destabilizing 0.005 N 0.295 neutral N 0.496386668 None None I
I/N 0.1571 likely_benign 0.2002 benign -0.33 Destabilizing 0.055 N 0.653 neutral N 0.449208797 None None I
I/P 0.4605 ambiguous 0.6262 pathogenic -0.429 Destabilizing 0.136 N 0.659 neutral None None None None I
I/Q 0.2006 likely_benign 0.268 benign -0.459 Destabilizing 0.214 N 0.661 neutral None None None None I
I/R 0.1504 likely_benign 0.2012 benign -0.023 Destabilizing 0.038 N 0.645 neutral None None None None I
I/S 0.1364 likely_benign 0.156 benign -0.887 Destabilizing 0.002 N 0.401 neutral N 0.364707475 None None I
I/T 0.1228 likely_benign 0.1561 benign -0.804 Destabilizing 0.001 N 0.321 neutral N 0.458521713 None None I
I/V 0.0722 likely_benign 0.084 benign -0.429 Destabilizing None N 0.247 neutral N 0.399492052 None None I
I/W 0.4618 ambiguous 0.5433 ambiguous -0.588 Destabilizing 0.864 D 0.618 neutral None None None None I
I/Y 0.2638 likely_benign 0.3245 benign -0.346 Destabilizing 0.038 N 0.605 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.