Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2457373942;73943;73944 chr2:178572415;178572414;178572413chr2:179437142;179437141;179437140
N2AB2293269019;69020;69021 chr2:178572415;178572414;178572413chr2:179437142;179437141;179437140
N2A2200566238;66239;66240 chr2:178572415;178572414;178572413chr2:179437142;179437141;179437140
N2B1550846747;46748;46749 chr2:178572415;178572414;178572413chr2:179437142;179437141;179437140
Novex-11563347122;47123;47124 chr2:178572415;178572414;178572413chr2:179437142;179437141;179437140
Novex-21570047323;47324;47325 chr2:178572415;178572414;178572413chr2:179437142;179437141;179437140
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: C
  • RefSeq wild type transcript codon: TGC
  • RefSeq wild type template codon: ACG
  • Domain: Fn3-66
  • Domain position: 55
  • Structural Position: 77
  • Q(SASA): 0.0703
  • 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
C/Y rs1240637296 -1.817 0.999 N 0.693 0.49 0.76527377799 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 9.96E-05 0 None 0 None 0 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
C/A 0.8149 likely_pathogenic 0.7504 pathogenic -1.748 Destabilizing 0.879 D 0.561 neutral None None None None N
C/D 0.9918 likely_pathogenic 0.9864 pathogenic -1.543 Destabilizing 1.0 D 0.736 prob.delet. None None None None N
C/E 0.9939 likely_pathogenic 0.9909 pathogenic -1.3 Destabilizing 1.0 D 0.737 prob.delet. None None None None N
C/F 0.7542 likely_pathogenic 0.703 pathogenic -1.104 Destabilizing 0.999 D 0.68 prob.neutral N 0.492560458 None None N
C/G 0.7221 likely_pathogenic 0.6022 pathogenic -2.118 Highly Destabilizing 0.993 D 0.731 prob.delet. N 0.503047989 None None N
C/H 0.9624 likely_pathogenic 0.9446 pathogenic -2.335 Highly Destabilizing 1.0 D 0.727 prob.delet. None None None None N
C/I 0.6368 likely_pathogenic 0.599 pathogenic -0.737 Destabilizing 0.984 D 0.605 neutral None None None None N
C/K 0.9954 likely_pathogenic 0.9932 pathogenic -1.143 Destabilizing 1.0 D 0.735 prob.delet. None None None None N
C/L 0.7175 likely_pathogenic 0.672 pathogenic -0.737 Destabilizing 0.985 D 0.593 neutral None None None None N
C/M 0.869 likely_pathogenic 0.8347 pathogenic 0.31 Stabilizing 1.0 D 0.677 prob.neutral None None None None N
C/N 0.9144 likely_pathogenic 0.8508 pathogenic -1.78 Destabilizing 1.0 D 0.743 deleterious None None None None N
C/P 0.9767 likely_pathogenic 0.9747 pathogenic -1.052 Destabilizing 1.0 D 0.729 prob.delet. None None None None N
C/Q 0.9765 likely_pathogenic 0.964 pathogenic -1.282 Destabilizing 1.0 D 0.739 prob.delet. None None None None N
C/R 0.9708 likely_pathogenic 0.9575 pathogenic -1.6 Destabilizing 1.0 D 0.741 deleterious N 0.489989564 None None N
C/S 0.7008 likely_pathogenic 0.5758 pathogenic -2.083 Highly Destabilizing 0.982 D 0.686 prob.neutral N 0.466107957 None None N
C/T 0.8099 likely_pathogenic 0.7205 pathogenic -1.65 Destabilizing 0.971 D 0.67 neutral None None None None N
C/V 0.558 ambiguous 0.526 ambiguous -1.052 Destabilizing 0.128 N 0.43 neutral None None None None N
C/W 0.9493 likely_pathogenic 0.9301 pathogenic -1.495 Destabilizing 1.0 D 0.691 prob.neutral N 0.518008547 None None N
C/Y 0.8971 likely_pathogenic 0.8682 pathogenic -1.318 Destabilizing 0.999 D 0.693 prob.neutral N 0.479077786 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.