Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2675580488;80489;80490 chr2:178565869;178565868;178565867chr2:179430596;179430595;179430594
N2AB2511475565;75566;75567 chr2:178565869;178565868;178565867chr2:179430596;179430595;179430594
N2A2418772784;72785;72786 chr2:178565869;178565868;178565867chr2:179430596;179430595;179430594
N2B1769053293;53294;53295 chr2:178565869;178565868;178565867chr2:179430596;179430595;179430594
Novex-11781553668;53669;53670 chr2:178565869;178565868;178565867chr2:179430596;179430595;179430594
Novex-21788253869;53870;53871 chr2:178565869;178565868;178565867chr2:179430596;179430595;179430594
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: F
  • RefSeq wild type transcript codon: TTC
  • RefSeq wild type template codon: AAG
  • Domain: Fn3-82
  • Domain position: 73
  • Structural Position: 106
  • Q(SASA): 0.1378
  • 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
F/L rs200181804 -1.479 1.0 N 0.689 0.553 0.562844193612 gnomAD-2.1.1 1.60642E-04 None None None None N None 8.27E-05 1.69693E-04 None 0 0 None 0 None 0 2.73506E-04 2.80505E-04
F/L rs200181804 -1.479 1.0 N 0.689 0.553 0.562844193612 gnomAD-3.1.2 2.95784E-04 None None None None N None 1.44725E-04 3.27783E-04 0 0 0 None 0 0 4.70533E-04 0 9.56938E-04
F/L rs200181804 -1.479 1.0 N 0.689 0.553 0.562844193612 1000 genomes 3.99361E-04 None None None None N None 0 1.4E-03 None None 0 1E-03 None None None 0 None
F/L rs200181804 -1.479 1.0 N 0.689 0.553 0.562844193612 gnomAD-4.0.0 2.9498E-04 None None None None N None 1.06615E-04 1.83358E-04 None 0 0 None 0 0 3.65361E-04 0 4.16226E-04
F/S None None 1.0 D 0.843 0.769 0.878141233213 gnomAD-4.0.0 1.59159E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85919E-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
F/A 0.9983 likely_pathogenic 0.9981 pathogenic -2.644 Highly Destabilizing 1.0 D 0.802 deleterious None None None None N
F/C 0.984 likely_pathogenic 0.9811 pathogenic -1.787 Destabilizing 1.0 D 0.857 deleterious D 0.548289845 None None N
F/D 0.9998 likely_pathogenic 0.9998 pathogenic -3.617 Highly Destabilizing 1.0 D 0.84 deleterious None None None None N
F/E 0.9998 likely_pathogenic 0.9998 pathogenic -3.385 Highly Destabilizing 1.0 D 0.841 deleterious None None None None N
F/G 0.9985 likely_pathogenic 0.9985 pathogenic -3.089 Highly Destabilizing 1.0 D 0.849 deleterious None None None None N
F/H 0.9965 likely_pathogenic 0.9961 pathogenic -2.011 Highly Destabilizing 1.0 D 0.844 deleterious None None None None N
F/I 0.9428 likely_pathogenic 0.9381 pathogenic -1.175 Destabilizing 1.0 D 0.776 deleterious N 0.51983588 None None N
F/K 0.9998 likely_pathogenic 0.9998 pathogenic -2.484 Highly Destabilizing 1.0 D 0.84 deleterious None None None None N
F/L 0.9915 likely_pathogenic 0.9902 pathogenic -1.175 Destabilizing 1.0 D 0.689 prob.neutral N 0.51320329 None None N
F/M 0.9803 likely_pathogenic 0.9803 pathogenic -0.862 Destabilizing 0.999 D 0.806 deleterious None None None None N
F/N 0.9992 likely_pathogenic 0.9992 pathogenic -3.191 Highly Destabilizing 1.0 D 0.885 deleterious None None None None N
F/P 0.9999 likely_pathogenic 0.9999 pathogenic -1.679 Destabilizing 1.0 D 0.887 deleterious None None None None N
F/Q 0.9995 likely_pathogenic 0.9995 pathogenic -3.005 Highly Destabilizing 1.0 D 0.884 deleterious None None None None N
F/R 0.9991 likely_pathogenic 0.999 pathogenic -2.247 Highly Destabilizing 1.0 D 0.888 deleterious None None None None N
F/S 0.998 likely_pathogenic 0.9975 pathogenic -3.644 Highly Destabilizing 1.0 D 0.843 deleterious D 0.55964615 None None N
F/T 0.9984 likely_pathogenic 0.9982 pathogenic -3.288 Highly Destabilizing 1.0 D 0.84 deleterious None None None None N
F/V 0.9542 likely_pathogenic 0.9501 pathogenic -1.679 Destabilizing 1.0 D 0.775 deleterious N 0.500233461 None None N
F/W 0.931 likely_pathogenic 0.9339 pathogenic -0.583 Destabilizing 1.0 D 0.782 deleterious None None None None N
F/Y 0.7157 likely_pathogenic 0.7197 pathogenic -0.96 Destabilizing 1.0 D 0.597 neutral N 0.517561837 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.