Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1683550728;50729;50730 chr2:178611806;178611805;178611804chr2:179476533;179476532;179476531
N2AB1519445805;45806;45807 chr2:178611806;178611805;178611804chr2:179476533;179476532;179476531
N2A1426743024;43025;43026 chr2:178611806;178611805;178611804chr2:179476533;179476532;179476531
N2B777023533;23534;23535 chr2:178611806;178611805;178611804chr2:179476533;179476532;179476531
Novex-1789523908;23909;23910 chr2:178611806;178611805;178611804chr2:179476533;179476532;179476531
Novex-2796224109;24110;24111 chr2:178611806;178611805;178611804chr2:179476533;179476532;179476531
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: G
  • RefSeq wild type transcript codon: GGC
  • RefSeq wild type template codon: CCG
  • Domain: Fn3-10
  • Domain position: 85
  • Structural Position: 118
  • Q(SASA): 0.1255
  • 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
G/A None None 1.0 D 0.699 0.668 0.481172606772 gnomAD-4.0.0 1.5934E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43509E-05 0
G/S None None 1.0 N 0.815 0.466 0.350746614512 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

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
G/A 0.9191 likely_pathogenic 0.9211 pathogenic -0.919 Destabilizing 1.0 D 0.699 prob.neutral D 0.738077841 None None N
G/C 0.9842 likely_pathogenic 0.9821 pathogenic -1.014 Destabilizing 1.0 D 0.855 deleterious D 0.739879664 None None N
G/D 0.9963 likely_pathogenic 0.9961 pathogenic -2.171 Highly Destabilizing 1.0 D 0.877 deleterious D 0.739340128 None None N
G/E 0.9972 likely_pathogenic 0.9975 pathogenic -2.204 Highly Destabilizing 1.0 D 0.913 deleterious None None None None N
G/F 0.9981 likely_pathogenic 0.9981 pathogenic -1.13 Destabilizing 1.0 D 0.885 deleterious None None None None N
G/H 0.9989 likely_pathogenic 0.9989 pathogenic -1.59 Destabilizing 1.0 D 0.839 deleterious None None None None N
G/I 0.998 likely_pathogenic 0.9981 pathogenic -0.479 Destabilizing 1.0 D 0.895 deleterious None None None None N
G/K 0.9993 likely_pathogenic 0.9994 pathogenic -1.513 Destabilizing 1.0 D 0.912 deleterious None None None None N
G/L 0.997 likely_pathogenic 0.997 pathogenic -0.479 Destabilizing 1.0 D 0.899 deleterious None None None None N
G/M 0.9988 likely_pathogenic 0.9989 pathogenic -0.35 Destabilizing 1.0 D 0.853 deleterious None None None None N
G/N 0.9963 likely_pathogenic 0.9967 pathogenic -1.262 Destabilizing 1.0 D 0.825 deleterious None None None None N
G/P 0.9993 likely_pathogenic 0.9992 pathogenic -0.587 Destabilizing 1.0 D 0.91 deleterious None None None None N
G/Q 0.9981 likely_pathogenic 0.9983 pathogenic -1.461 Destabilizing 1.0 D 0.904 deleterious None None None None N
G/R 0.9976 likely_pathogenic 0.9978 pathogenic -1.157 Destabilizing 1.0 D 0.918 deleterious D 0.700060304 None None N
G/S 0.8803 likely_pathogenic 0.891 pathogenic -1.402 Destabilizing 1.0 D 0.815 deleterious N 0.494238407 None None N
G/T 0.9901 likely_pathogenic 0.991 pathogenic -1.384 Destabilizing 1.0 D 0.909 deleterious None None None None N
G/V 0.996 likely_pathogenic 0.9963 pathogenic -0.587 Destabilizing 1.0 D 0.905 deleterious D 0.739340128 None None N
G/W 0.9971 likely_pathogenic 0.997 pathogenic -1.567 Destabilizing 1.0 D 0.861 deleterious None None None None N
G/Y 0.9984 likely_pathogenic 0.9986 pathogenic -1.185 Destabilizing 1.0 D 0.875 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.