Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC29309013;9014;9015 chr2:178769793;178769792;178769791chr2:179634520;179634519;179634518
N2AB29309013;9014;9015 chr2:178769793;178769792;178769791chr2:179634520;179634519;179634518
N2A29309013;9014;9015 chr2:178769793;178769792;178769791chr2:179634520;179634519;179634518
N2B28848875;8876;8877 chr2:178769793;178769792;178769791chr2:179634520;179634519;179634518
Novex-128848875;8876;8877 chr2:178769793;178769792;178769791chr2:179634520;179634519;179634518
Novex-228848875;8876;8877 chr2:178769793;178769792;178769791chr2:179634520;179634519;179634518
Novex-329309013;9014;9015 chr2:178769793;178769792;178769791chr2:179634520;179634519;179634518

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTT
  • RefSeq wild type template codon: CAA
  • Domain: Ig-19
  • Domain position: 49
  • Structural Position: 125
  • Q(SASA): 0.1459
  • 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 None None 1.0 N 0.809 0.644 0.827170336189 gnomAD-4.0.0 1.59047E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.02133E-05
V/G rs1246031215 -2.378 1.0 N 0.78 0.666 0.859104566776 gnomAD-2.1.1 3.99E-06 None None None None N None 0 2.89E-05 None 0 0 None 0 None 0 0 0
V/G rs1246031215 -2.378 1.0 N 0.78 0.666 0.859104566776 gnomAD-3.1.2 6.57E-06 None None None None N None 0 6.56E-05 0 0 0 None 0 0 0 0 0
V/G rs1246031215 -2.378 1.0 N 0.78 0.666 0.859104566776 gnomAD-4.0.0 2.56135E-06 None None None None N None 0 3.39041E-05 None 0 0 None 0 0 0 0 0
V/I rs56373393 -0.792 0.997 N 0.414 0.307 None gnomAD-2.1.1 2.72761E-04 None None None None N None 0 0 None 0 3.81067E-03 None 0 None 0 0 1.38735E-04
V/I rs56373393 -0.792 0.997 N 0.414 0.307 None gnomAD-3.1.2 8.55E-05 None None None None N None 0 0 0 0 2.50482E-03 None 0 0 0 0 0
V/I rs56373393 -0.792 0.997 N 0.414 0.307 None 1000 genomes 9.98403E-04 None None None None N None 0 0 None None 5E-03 0 None None None 0 None
V/I rs56373393 -0.792 0.997 N 0.414 0.307 None gnomAD-4.0.0 8.85968E-05 None None None None N None 0 0 None 0 3.075E-03 None 0 0 8.47455E-07 0 6.39898E-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
V/A 0.6409 likely_pathogenic 0.5319 ambiguous -1.406 Destabilizing 0.999 D 0.456 neutral N 0.507421605 None None N
V/C 0.9569 likely_pathogenic 0.9462 pathogenic -0.86 Destabilizing 1.0 D 0.727 prob.delet. None None None None N
V/D 0.9438 likely_pathogenic 0.91 pathogenic -1.521 Destabilizing 1.0 D 0.809 deleterious N 0.499211546 None None N
V/E 0.864 likely_pathogenic 0.8081 pathogenic -1.531 Destabilizing 1.0 D 0.772 deleterious None None None None N
V/F 0.5296 ambiguous 0.4523 ambiguous -1.062 Destabilizing 1.0 D 0.785 deleterious N 0.510389668 None None N
V/G 0.8149 likely_pathogenic 0.7516 pathogenic -1.703 Destabilizing 1.0 D 0.78 deleterious N 0.508923811 None None N
V/H 0.9396 likely_pathogenic 0.9166 pathogenic -1.245 Destabilizing 1.0 D 0.756 deleterious None None None None N
V/I 0.1241 likely_benign 0.1077 benign -0.692 Destabilizing 0.997 D 0.414 neutral N 0.489586922 None None N
V/K 0.8935 likely_pathogenic 0.86 pathogenic -1.392 Destabilizing 1.0 D 0.773 deleterious None None None None N
V/L 0.617 likely_pathogenic 0.5162 ambiguous -0.692 Destabilizing 0.997 D 0.44 neutral N 0.49465076 None None N
V/M 0.4382 ambiguous 0.3341 benign -0.498 Destabilizing 1.0 D 0.689 prob.neutral None None None None N
V/N 0.8802 likely_pathogenic 0.8081 pathogenic -1.133 Destabilizing 1.0 D 0.803 deleterious None None None None N
V/P 0.9932 likely_pathogenic 0.9911 pathogenic -0.897 Destabilizing 1.0 D 0.787 deleterious None None None None N
V/Q 0.8507 likely_pathogenic 0.7958 pathogenic -1.322 Destabilizing 1.0 D 0.787 deleterious None None None None N
V/R 0.8315 likely_pathogenic 0.8016 pathogenic -0.783 Destabilizing 1.0 D 0.801 deleterious None None None None N
V/S 0.7357 likely_pathogenic 0.6293 pathogenic -1.554 Destabilizing 1.0 D 0.77 deleterious None None None None N
V/T 0.5352 ambiguous 0.4327 ambiguous -1.468 Destabilizing 0.999 D 0.554 neutral None None None None N
V/W 0.9783 likely_pathogenic 0.9751 pathogenic -1.27 Destabilizing 1.0 D 0.757 deleterious None None None None N
V/Y 0.9237 likely_pathogenic 0.9072 pathogenic -1.007 Destabilizing 1.0 D 0.793 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.