Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1497245139;45140;45141 chr2:178622008;178622007;178622006chr2:179486735;179486734;179486733
N2AB1333140216;40217;40218 chr2:178622008;178622007;178622006chr2:179486735;179486734;179486733
N2A1240437435;37436;37437 chr2:178622008;178622007;178622006chr2:179486735;179486734;179486733
N2B590717944;17945;17946 chr2:178622008;178622007;178622006chr2:179486735;179486734;179486733
Novex-1603218319;18320;18321 chr2:178622008;178622007;178622006chr2:179486735;179486734;179486733
Novex-2609918520;18521;18522 chr2:178622008;178622007;178622006chr2:179486735;179486734;179486733
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTT
  • RefSeq wild type template codon: CAA
  • Domain: Ig-101
  • Domain position: 31
  • Structural Position: 46
  • Q(SASA): 0.2488
  • 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/F None None 0.991 D 0.729 0.592 0.809165052584 gnomAD-4.0.0 6.90004E-07 None None None None N None 0 0 None 0 2.55337E-05 None 0 0 0 0 0
V/I None None 0.863 D 0.547 0.314 0.620746667299 gnomAD-4.0.0 6.90004E-07 None None None None N None 0 0 None 0 0 None 0 0 9.04743E-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
V/A 0.5069 ambiguous 0.4741 ambiguous -1.475 Destabilizing 0.046 N 0.314 neutral D 0.660556922 None None N
V/C 0.9119 likely_pathogenic 0.9001 pathogenic -0.87 Destabilizing 0.998 D 0.712 prob.delet. None None None None N
V/D 0.9029 likely_pathogenic 0.9032 pathogenic -1.606 Destabilizing 0.991 D 0.788 deleterious D 0.782780269 None None N
V/E 0.8524 likely_pathogenic 0.8614 pathogenic -1.529 Destabilizing 0.986 D 0.785 deleterious None None None None N
V/F 0.5735 likely_pathogenic 0.5343 ambiguous -0.981 Destabilizing 0.991 D 0.729 prob.delet. D 0.666968894 None None N
V/G 0.5193 ambiguous 0.5011 ambiguous -1.847 Destabilizing 0.964 D 0.763 deleterious D 0.611558875 None None N
V/H 0.9718 likely_pathogenic 0.97 pathogenic -1.346 Destabilizing 0.999 D 0.791 deleterious None None None None N
V/I 0.1403 likely_benign 0.1354 benign -0.521 Destabilizing 0.863 D 0.547 neutral D 0.524127032 None None N
V/K 0.9402 likely_pathogenic 0.9429 pathogenic -1.304 Destabilizing 0.986 D 0.784 deleterious None None None None N
V/L 0.5912 likely_pathogenic 0.5635 ambiguous -0.521 Destabilizing 0.863 D 0.578 neutral D 0.619365354 None None N
V/M 0.5343 ambiguous 0.5 ambiguous -0.414 Destabilizing 0.998 D 0.702 prob.neutral None None None None N
V/N 0.8758 likely_pathogenic 0.8807 pathogenic -1.266 Destabilizing 0.993 D 0.793 deleterious None None None None N
V/P 0.7437 likely_pathogenic 0.7612 pathogenic -0.807 Destabilizing 0.993 D 0.785 deleterious None None None None N
V/Q 0.9079 likely_pathogenic 0.9082 pathogenic -1.331 Destabilizing 0.993 D 0.793 deleterious None None None None N
V/R 0.927 likely_pathogenic 0.9298 pathogenic -0.859 Destabilizing 0.993 D 0.785 deleterious None None None None N
V/S 0.7489 likely_pathogenic 0.7345 pathogenic -1.762 Destabilizing 0.973 D 0.764 deleterious None None None None N
V/T 0.6021 likely_pathogenic 0.592 pathogenic -1.567 Destabilizing 0.953 D 0.605 neutral None None None None N
V/W 0.9747 likely_pathogenic 0.9701 pathogenic -1.29 Destabilizing 0.999 D 0.786 deleterious None None None None N
V/Y 0.9117 likely_pathogenic 0.9059 pathogenic -0.938 Destabilizing 0.998 D 0.72 prob.delet. 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.