Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1722251889;51890;51891 chr2:178609759;178609758;178609757chr2:179474486;179474485;179474484
N2AB1558146966;46967;46968 chr2:178609759;178609758;178609757chr2:179474486;179474485;179474484
N2A1465444185;44186;44187 chr2:178609759;178609758;178609757chr2:179474486;179474485;179474484
N2B815724694;24695;24696 chr2:178609759;178609758;178609757chr2:179474486;179474485;179474484
Novex-1828225069;25070;25071 chr2:178609759;178609758;178609757chr2:179474486;179474485;179474484
Novex-2834925270;25271;25272 chr2:178609759;178609758;178609757chr2:179474486;179474485;179474484
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTG
  • RefSeq wild type template codon: CAC
  • Domain: Fn3-13
  • Domain position: 76
  • Structural Position: 108
  • Q(SASA): 0.0698
  • 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/E None None 0.942 D 0.802 0.747 0.826887190631 gnomAD-4.0.0 3.18682E-06 None None None None N None 0 0 None 0 0 None 3.76634E-05 0 0 0 0
V/G rs1014056487 -3.597 0.698 D 0.813 0.719 0.777313054034 gnomAD-2.1.1 3.19E-05 None None None None N None 0 0 None 0 0 None 0 None 2.87853E-04 0 0
V/G rs1014056487 -3.597 0.698 D 0.813 0.719 0.777313054034 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 9.41E-05 0 0 0 0
V/G rs1014056487 -3.597 0.698 D 0.813 0.719 0.777313054034 gnomAD-4.0.0 2.56573E-06 None None None None N None 0 0 None 0 0 None 3.13853E-05 0 0 0 0
V/M None None 0.99 D 0.646 0.631 0.729886986044 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
V/A 0.9361 likely_pathogenic 0.892 pathogenic -2.564 Highly Destabilizing 0.006 N 0.332 neutral D 0.548364838 None None N
V/C 0.9766 likely_pathogenic 0.9733 pathogenic -1.982 Destabilizing 0.994 D 0.742 deleterious None None None None N
V/D 0.9994 likely_pathogenic 0.9992 pathogenic -3.504 Highly Destabilizing 0.978 D 0.867 deleterious None None None None N
V/E 0.9979 likely_pathogenic 0.997 pathogenic -3.204 Highly Destabilizing 0.942 D 0.802 deleterious D 0.63969891 None None N
V/F 0.9856 likely_pathogenic 0.98 pathogenic -1.418 Destabilizing 0.978 D 0.729 prob.delet. None None None None N
V/G 0.9613 likely_pathogenic 0.9472 pathogenic -3.131 Highly Destabilizing 0.698 D 0.813 deleterious D 0.63969891 None None N
V/H 0.9996 likely_pathogenic 0.9995 pathogenic -2.942 Highly Destabilizing 0.998 D 0.867 deleterious None None None None N
V/I 0.2253 likely_benign 0.2061 benign -0.907 Destabilizing 0.717 D 0.525 neutral None None None None N
V/K 0.9986 likely_pathogenic 0.9982 pathogenic -2.093 Highly Destabilizing 0.956 D 0.821 deleterious None None None None N
V/L 0.9181 likely_pathogenic 0.8992 pathogenic -0.907 Destabilizing 0.489 N 0.613 neutral N 0.519292217 None None N
V/M 0.969 likely_pathogenic 0.9595 pathogenic -1.181 Destabilizing 0.99 D 0.646 neutral D 0.529526568 None None N
V/N 0.9978 likely_pathogenic 0.9971 pathogenic -2.717 Highly Destabilizing 0.978 D 0.883 deleterious None None None None N
V/P 0.9976 likely_pathogenic 0.997 pathogenic -1.443 Destabilizing 0.978 D 0.844 deleterious None None None None N
V/Q 0.9979 likely_pathogenic 0.9972 pathogenic -2.394 Highly Destabilizing 0.978 D 0.868 deleterious None None None None N
V/R 0.9959 likely_pathogenic 0.9949 pathogenic -2.078 Highly Destabilizing 0.956 D 0.885 deleterious None None None None N
V/S 0.9864 likely_pathogenic 0.9797 pathogenic -3.203 Highly Destabilizing 0.754 D 0.783 deleterious None None None None N
V/T 0.9685 likely_pathogenic 0.9591 pathogenic -2.762 Highly Destabilizing 0.86 D 0.601 neutral None None None None N
V/W 0.9998 likely_pathogenic 0.9998 pathogenic -1.996 Destabilizing 0.998 D 0.837 deleterious None None None None N
V/Y 0.9985 likely_pathogenic 0.998 pathogenic -1.729 Destabilizing 0.993 D 0.743 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.