Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC29549085;9086;9087 chr2:178769721;178769720;178769719chr2:179634448;179634447;179634446
N2AB29549085;9086;9087 chr2:178769721;178769720;178769719chr2:179634448;179634447;179634446
N2A29549085;9086;9087 chr2:178769721;178769720;178769719chr2:179634448;179634447;179634446
N2B29088947;8948;8949 chr2:178769721;178769720;178769719chr2:179634448;179634447;179634446
Novex-129088947;8948;8949 chr2:178769721;178769720;178769719chr2:179634448;179634447;179634446
Novex-229088947;8948;8949 chr2:178769721;178769720;178769719chr2:179634448;179634447;179634446
Novex-329549085;9086;9087 chr2:178769721;178769720;178769719chr2:179634448;179634447;179634446

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTC
  • RefSeq wild type template codon: CAG
  • Domain: Ig-19
  • Domain position: 73
  • Structural Position: 157
  • Q(SASA): 0.1826
  • 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
V/D rs973559075 None 0.999 N 0.829 0.734 0.856560271015 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
V/F rs762256991 -1.228 0.998 D 0.777 0.485 0.842836954303 gnomAD-2.1.1 5.33E-05 None None None None N None 0 0 None 0 0 None 0 None 5.98182E-04 0 0
V/F rs762256991 -1.228 0.998 D 0.777 0.485 0.842836954303 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 9.47E-05 0 0 0 0
V/F rs762256991 -1.228 0.998 D 0.777 0.485 0.842836954303 gnomAD-4.0.0 1.17756E-05 None None None None N None 0 0 None 0 0 None 2.97358E-04 0 0 0 0
V/I None None 0.543 N 0.273 0.183 0.60324968888 gnomAD-4.0.0 6.84212E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99433E-07 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
V/A 0.5648 likely_pathogenic 0.5973 pathogenic -1.762 Destabilizing 0.994 D 0.593 neutral N 0.501827228 None None N
V/C 0.8771 likely_pathogenic 0.8877 pathogenic -1.337 Destabilizing 1.0 D 0.771 deleterious None None None None N
V/D 0.8894 likely_pathogenic 0.8884 pathogenic -1.66 Destabilizing 0.999 D 0.829 deleterious N 0.512042558 None None N
V/E 0.6979 likely_pathogenic 0.7373 pathogenic -1.561 Destabilizing 1.0 D 0.799 deleterious None None None None N
V/F 0.3921 ambiguous 0.411 ambiguous -1.133 Destabilizing 0.998 D 0.777 deleterious D 0.539766111 None None N
V/G 0.7464 likely_pathogenic 0.7548 pathogenic -2.193 Highly Destabilizing 0.999 D 0.805 deleterious D 0.644929232 None None N
V/H 0.8077 likely_pathogenic 0.8486 pathogenic -1.746 Destabilizing 1.0 D 0.821 deleterious None None None None N
V/I 0.0815 likely_benign 0.0869 benign -0.627 Destabilizing 0.543 D 0.273 neutral N 0.461342646 None None N
V/K 0.6116 likely_pathogenic 0.7014 pathogenic -1.35 Destabilizing 1.0 D 0.803 deleterious None None None None N
V/L 0.3727 ambiguous 0.4103 ambiguous -0.627 Destabilizing 0.948 D 0.479 neutral N 0.511105058 None None N
V/M 0.2893 likely_benign 0.336 benign -0.614 Destabilizing 0.999 D 0.715 prob.delet. None None None None N
V/N 0.7129 likely_pathogenic 0.7514 pathogenic -1.327 Destabilizing 1.0 D 0.827 deleterious None None None None N
V/P 0.9952 likely_pathogenic 0.9928 pathogenic -0.973 Destabilizing 1.0 D 0.828 deleterious None None None None N
V/Q 0.5606 ambiguous 0.6366 pathogenic -1.361 Destabilizing 1.0 D 0.828 deleterious None None None None N
V/R 0.5444 ambiguous 0.6155 pathogenic -1.007 Destabilizing 1.0 D 0.828 deleterious None None None None N
V/S 0.5722 likely_pathogenic 0.6047 pathogenic -1.989 Destabilizing 1.0 D 0.803 deleterious None None None None N
V/T 0.4573 ambiguous 0.5029 ambiguous -1.761 Destabilizing 0.996 D 0.637 neutral None None None None N
V/W 0.956 likely_pathogenic 0.9617 pathogenic -1.435 Destabilizing 1.0 D 0.785 deleterious None None None None N
V/Y 0.8124 likely_pathogenic 0.8362 pathogenic -1.104 Destabilizing 1.0 D 0.792 deleterious None None 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.