Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1592447995;47996;47997 chr2:178617225;178617224;178617223chr2:179481952;179481951;179481950
N2AB1428343072;43073;43074 chr2:178617225;178617224;178617223chr2:179481952;179481951;179481950
N2A1335640291;40292;40293 chr2:178617225;178617224;178617223chr2:179481952;179481951;179481950
N2B685920800;20801;20802 chr2:178617225;178617224;178617223chr2:179481952;179481951;179481950
Novex-1698421175;21176;21177 chr2:178617225;178617224;178617223chr2:179481952;179481951;179481950
Novex-2705121376;21377;21378 chr2:178617225;178617224;178617223chr2:179481952;179481951;179481950
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: L
  • RefSeq wild type transcript codon: TTG
  • RefSeq wild type template codon: AAC
  • Domain: Fn3-3
  • Domain position: 66
  • Structural Position: 97
  • Q(SASA): 0.1055
  • 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
L/F None None 1.0 D 0.875 0.53 0.706036002137 gnomAD-4.0.0 7.16023E-07 None None None None N None 0 0 None 0 0 None 0 0 9.25191E-07 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
L/A 0.931 likely_pathogenic 0.9269 pathogenic -2.601 Highly Destabilizing 0.999 D 0.826 deleterious None None None None N
L/C 0.932 likely_pathogenic 0.9292 pathogenic -2.438 Highly Destabilizing 1.0 D 0.776 deleterious None None None None N
L/D 0.9972 likely_pathogenic 0.9969 pathogenic -2.661 Highly Destabilizing 1.0 D 0.847 deleterious None None None None N
L/E 0.9835 likely_pathogenic 0.9821 pathogenic -2.55 Highly Destabilizing 1.0 D 0.849 deleterious None None None None N
L/F 0.7519 likely_pathogenic 0.7555 pathogenic -1.921 Destabilizing 1.0 D 0.875 deleterious D 0.76144295 None None N
L/G 0.9816 likely_pathogenic 0.9814 pathogenic -3.042 Highly Destabilizing 1.0 D 0.837 deleterious None None None None N
L/H 0.9718 likely_pathogenic 0.9703 pathogenic -2.2 Highly Destabilizing 1.0 D 0.803 deleterious None None None None N
L/I 0.2808 likely_benign 0.276 benign -1.376 Destabilizing 0.999 D 0.834 deleterious None None None None N
L/K 0.9692 likely_pathogenic 0.966 pathogenic -1.973 Destabilizing 1.0 D 0.839 deleterious None None None None N
L/M 0.4135 ambiguous 0.4171 ambiguous -1.393 Destabilizing 1.0 D 0.845 deleterious D 0.645129669 None None N
L/N 0.9774 likely_pathogenic 0.9765 pathogenic -2.115 Highly Destabilizing 1.0 D 0.853 deleterious None None None None N
L/P 0.9803 likely_pathogenic 0.9773 pathogenic -1.761 Destabilizing 1.0 D 0.843 deleterious None None None None N
L/Q 0.9441 likely_pathogenic 0.9387 pathogenic -2.213 Highly Destabilizing 1.0 D 0.843 deleterious None None None None N
L/R 0.9487 likely_pathogenic 0.9434 pathogenic -1.398 Destabilizing 1.0 D 0.841 deleterious None None None None N
L/S 0.9823 likely_pathogenic 0.9807 pathogenic -2.863 Highly Destabilizing 1.0 D 0.838 deleterious D 0.812669685 None None N
L/T 0.9064 likely_pathogenic 0.9024 pathogenic -2.612 Highly Destabilizing 1.0 D 0.824 deleterious None None None None N
L/V 0.3721 ambiguous 0.3633 ambiguous -1.761 Destabilizing 0.999 D 0.841 deleterious D 0.605213304 None None N
L/W 0.9476 likely_pathogenic 0.95 pathogenic -2.051 Highly Destabilizing 1.0 D 0.755 deleterious D 0.812669685 None None N
L/Y 0.9698 likely_pathogenic 0.9709 pathogenic -1.833 Destabilizing 1.0 D 0.812 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.