Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC33489100690;100691;100692 chr2:178536282;178536281;178536280chr2:179401009;179401008;179401007
N2AB3184895767;95768;95769 chr2:178536282;178536281;178536280chr2:179401009;179401008;179401007
N2A3092192986;92987;92988 chr2:178536282;178536281;178536280chr2:179401009;179401008;179401007
N2B2442473495;73496;73497 chr2:178536282;178536281;178536280chr2:179401009;179401008;179401007
Novex-12454973870;73871;73872 chr2:178536282;178536281;178536280chr2:179401009;179401008;179401007
Novex-22461674071;74072;74073 chr2:178536282;178536281;178536280chr2:179401009;179401008;179401007
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: S
  • RefSeq wild type transcript codon: TCT
  • RefSeq wild type template codon: AGA
  • Domain: Fn3-131
  • Domain position: 98
  • Structural Position: 132
  • Q(SASA): 0.9637
  • 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
S/A None None 0.893 N 0.563 0.163 0.225215365344 gnomAD-4.0.0 1.59163E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85858E-06 0 0
S/C None None 0.999 D 0.483 0.419 0.463758542814 gnomAD-4.0.0 4.80129E-06 None None None None I None 0 0 None 0 0 None 0 0 5.25001E-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
S/A 0.0951 likely_benign 0.0901 benign -0.184 Destabilizing 0.893 D 0.563 neutral N 0.389888347 None None I
S/C 0.2081 likely_benign 0.1908 benign -0.236 Destabilizing 0.999 D 0.483 neutral D 0.524493202 None None I
S/D 0.4018 ambiguous 0.4721 ambiguous -0.002 Destabilizing 0.982 D 0.546 neutral None None None None I
S/E 0.5588 ambiguous 0.6198 pathogenic -0.112 Destabilizing 0.982 D 0.569 neutral None None None None I
S/F 0.3782 ambiguous 0.3722 ambiguous -0.85 Destabilizing 0.998 D 0.568 neutral N 0.487148322 None None I
S/G 0.1261 likely_benign 0.1212 benign -0.258 Destabilizing 0.982 D 0.502 neutral None None None None I
S/H 0.5312 ambiguous 0.5782 pathogenic -0.7 Destabilizing 1.0 D 0.426 neutral None None None None I
S/I 0.2871 likely_benign 0.2697 benign -0.123 Destabilizing 0.99 D 0.587 neutral None None None None I
S/K 0.751 likely_pathogenic 0.8028 pathogenic -0.433 Destabilizing 0.964 D 0.55 neutral None None None None I
S/L 0.1661 likely_benign 0.1377 benign -0.123 Destabilizing 0.964 D 0.381 neutral None None None None I
S/M 0.2904 likely_benign 0.242 benign 0.037 Stabilizing 1.0 D 0.407 neutral None None None None I
S/N 0.1643 likely_benign 0.1661 benign -0.11 Destabilizing 0.982 D 0.571 neutral None None None None I
S/P 0.3549 ambiguous 0.4143 ambiguous -0.117 Destabilizing 0.998 D 0.455 neutral N 0.465156897 None None I
S/Q 0.6128 likely_pathogenic 0.6593 pathogenic -0.383 Destabilizing 0.998 D 0.501 neutral None None None None I
S/R 0.7186 likely_pathogenic 0.7959 pathogenic -0.177 Destabilizing 0.995 D 0.447 neutral None None None None I
S/T 0.097 likely_benign 0.0763 benign -0.219 Destabilizing 0.214 N 0.257 neutral N 0.450379446 None None I
S/V 0.2775 likely_benign 0.2502 benign -0.117 Destabilizing 0.99 D 0.355 neutral None None None None I
S/W 0.5508 ambiguous 0.5951 pathogenic -0.903 Destabilizing 1.0 D 0.743 deleterious None None None None I
S/Y 0.3036 likely_benign 0.3441 ambiguous -0.605 Destabilizing 0.998 D 0.539 neutral N 0.504867291 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.