Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2957988960;88961;88962 chr2:178554612;178554611;178554610chr2:179419339;179419338;179419337
N2AB2793884037;84038;84039 chr2:178554612;178554611;178554610chr2:179419339;179419338;179419337
N2A2701181256;81257;81258 chr2:178554612;178554611;178554610chr2:179419339;179419338;179419337
N2B2051461765;61766;61767 chr2:178554612;178554611;178554610chr2:179419339;179419338;179419337
Novex-12063962140;62141;62142 chr2:178554612;178554611;178554610chr2:179419339;179419338;179419337
Novex-22070662341;62342;62343 chr2:178554612;178554611;178554610chr2:179419339;179419338;179419337
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTT
  • RefSeq wild type template codon: CAA
  • Domain: Fn3-103
  • Domain position: 47
  • Structural Position: 63
  • Q(SASA): 0.8653
  • 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
V/A rs777595903 -0.159 0.978 N 0.463 0.308 0.564541561611 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.88E-06 0
V/A rs777595903 -0.159 0.978 N 0.463 0.308 0.564541561611 gnomAD-3.1.2 6.58E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
V/A rs777595903 -0.159 0.978 N 0.463 0.308 0.564541561611 gnomAD-4.0.0 2.56215E-06 None None None None I None 0 0 None 0 0 None 0 0 4.78535E-06 0 0
V/D None None 0.999 N 0.637 0.529 0.728753902033 gnomAD-4.0.0 1.59102E-06 None None None None I None 0 0 None 0 0 None 0 0 2.8578E-06 0 0
V/F rs879204059 None 0.999 N 0.523 0.291 0.652406804477 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
V/F rs879204059 None 0.999 N 0.523 0.291 0.652406804477 gnomAD-4.0.0 6.57315E-06 None None None None I None 0 0 None 0 0 None 0 0 1.47003E-05 0 0
V/I rs879204059 None 0.768 N 0.356 0.173 None gnomAD-3.1.2 6.57E-06 None None None None I None 2.41E-05 0 0 0 0 None 0 0 0 0 0
V/I rs879204059 None 0.768 N 0.356 0.173 None gnomAD-4.0.0 9.91472E-06 None None None None I None 1.33497E-05 0 None 0 0 None 0 0 1.27135E-05 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 0.3968 ambiguous 0.3402 ambiguous -0.524 Destabilizing 0.978 D 0.463 neutral N 0.445271909 None None I
V/C 0.8894 likely_pathogenic 0.8658 pathogenic -0.794 Destabilizing 1.0 D 0.569 neutral None None None None I
V/D 0.7978 likely_pathogenic 0.74 pathogenic -0.435 Destabilizing 0.999 D 0.637 neutral N 0.424069918 None None I
V/E 0.7177 likely_pathogenic 0.6387 pathogenic -0.516 Destabilizing 0.999 D 0.559 neutral None None None None I
V/F 0.3942 ambiguous 0.3363 benign -0.65 Destabilizing 0.999 D 0.523 neutral N 0.494353935 None None I
V/G 0.4881 ambiguous 0.4101 ambiguous -0.655 Destabilizing 0.999 D 0.621 neutral N 0.384239306 None None I
V/H 0.8863 likely_pathogenic 0.8408 pathogenic -0.033 Destabilizing 1.0 D 0.647 neutral None None None None I
V/I 0.0877 likely_benign 0.0847 benign -0.31 Destabilizing 0.768 D 0.356 neutral N 0.458990568 None None I
V/K 0.7921 likely_pathogenic 0.7076 pathogenic -0.518 Destabilizing 0.999 D 0.563 neutral None None None None I
V/L 0.2819 likely_benign 0.2004 benign -0.31 Destabilizing 0.958 D 0.495 neutral N 0.386282321 None None I
V/M 0.2387 likely_benign 0.198 benign -0.614 Destabilizing 0.998 D 0.545 neutral None None None None I
V/N 0.6526 likely_pathogenic 0.5704 pathogenic -0.38 Destabilizing 0.999 D 0.635 neutral None None None None I
V/P 0.7164 likely_pathogenic 0.648 pathogenic -0.35 Destabilizing 0.999 D 0.586 neutral None None None None I
V/Q 0.7121 likely_pathogenic 0.6258 pathogenic -0.568 Destabilizing 0.999 D 0.592 neutral None None None None I
V/R 0.7345 likely_pathogenic 0.6551 pathogenic -0.01 Destabilizing 0.999 D 0.637 neutral None None None None I
V/S 0.5503 ambiguous 0.4798 ambiguous -0.725 Destabilizing 0.999 D 0.565 neutral None None None None I
V/T 0.4292 ambiguous 0.3655 ambiguous -0.704 Destabilizing 0.992 D 0.457 neutral None None None None I
V/W 0.9401 likely_pathogenic 0.9216 pathogenic -0.719 Destabilizing 1.0 D 0.693 prob.neutral None None None None I
V/Y 0.8184 likely_pathogenic 0.7687 pathogenic -0.446 Destabilizing 0.999 D 0.548 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.