Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2523175916;75917;75918 chr2:178570441;178570440;178570439chr2:179435168;179435167;179435166
N2AB2359070993;70994;70995 chr2:178570441;178570440;178570439chr2:179435168;179435167;179435166
N2A2266368212;68213;68214 chr2:178570441;178570440;178570439chr2:179435168;179435167;179435166
N2B1616648721;48722;48723 chr2:178570441;178570440;178570439chr2:179435168;179435167;179435166
Novex-11629149096;49097;49098 chr2:178570441;178570440;178570439chr2:179435168;179435167;179435166
Novex-21635849297;49298;49299 chr2:178570441;178570440;178570439chr2:179435168;179435167;179435166
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: Q
  • RefSeq wild type transcript codon: CAG
  • RefSeq wild type template codon: GTC
  • Domain: Fn3-71
  • Domain position: 28
  • Structural Position: 29
  • Q(SASA): 0.6803
  • 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
Q/H None None 0.151 N 0.227 0.081 0.163833314356 gnomAD-4.0.0 1.59256E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85963E-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
Q/A 0.3105 likely_benign 0.3049 benign -0.19 Destabilizing 0.985 D 0.546 neutral None None None None I
Q/C 0.6601 likely_pathogenic 0.6747 pathogenic 0.195 Stabilizing 1.0 D 0.692 prob.neutral None None None None I
Q/D 0.3968 ambiguous 0.3742 ambiguous 0.033 Stabilizing 0.985 D 0.477 neutral None None None None I
Q/E 0.0869 likely_benign 0.0865 benign -0.001 Destabilizing 0.91 D 0.422 neutral N 0.392069356 None None I
Q/F 0.7158 likely_pathogenic 0.7205 pathogenic -0.422 Destabilizing 0.996 D 0.646 neutral None None None None I
Q/G 0.3889 ambiguous 0.3885 ambiguous -0.368 Destabilizing 0.985 D 0.547 neutral None None None None I
Q/H 0.2338 likely_benign 0.2285 benign -0.314 Destabilizing 0.151 N 0.227 neutral N 0.400304837 None None I
Q/I 0.5638 ambiguous 0.5403 ambiguous 0.188 Stabilizing 0.999 D 0.642 neutral None None None None I
Q/K 0.1898 likely_benign 0.1938 benign 0.068 Stabilizing 0.961 D 0.494 neutral N 0.458504991 None None I
Q/L 0.1751 likely_benign 0.1708 benign 0.188 Stabilizing 0.98 D 0.521 neutral N 0.470183423 None None I
Q/M 0.4174 ambiguous 0.4157 ambiguous 0.421 Stabilizing 0.999 D 0.428 neutral None None None None I
Q/N 0.3318 likely_benign 0.3175 benign -0.208 Destabilizing 0.97 D 0.479 neutral None None None None I
Q/P 0.6612 likely_pathogenic 0.6632 pathogenic 0.09 Stabilizing 0.998 D 0.508 neutral N 0.46064122 None None I
Q/R 0.1831 likely_benign 0.1898 benign 0.192 Stabilizing 0.961 D 0.508 neutral N 0.434340053 None None I
Q/S 0.3303 likely_benign 0.3236 benign -0.2 Destabilizing 0.985 D 0.468 neutral None None None None I
Q/T 0.3584 ambiguous 0.3293 benign -0.082 Destabilizing 0.985 D 0.494 neutral None None None None I
Q/V 0.377 ambiguous 0.3642 ambiguous 0.09 Stabilizing 0.999 D 0.492 neutral None None None None I
Q/W 0.6145 likely_pathogenic 0.6204 pathogenic -0.415 Destabilizing 1.0 D 0.681 prob.neutral None None None None I
Q/Y 0.4838 ambiguous 0.492 ambiguous -0.155 Destabilizing 0.991 D 0.495 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.