Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC497115136;15137;15138 chr2:178735535;178735534;178735533chr2:179600262;179600261;179600260
N2AB465414185;14186;14187 chr2:178735535;178735534;178735533chr2:179600262;179600261;179600260
N2A372711404;11405;11406 chr2:178735535;178735534;178735533chr2:179600262;179600261;179600260
N2BNoneNone chr2:Nonechr2:None
Novex-1NoneNone chr2:Nonechr2:None
Novex-2NoneNone chr2:Nonechr2:None
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: Ig-32
  • Domain position: 84
  • Structural Position: 169
  • Q(SASA): 0.1047
  • 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/G rs537312655 -2.55 0.012 D 0.724 0.121 0.507628581994 gnomAD-2.1.1 3.97851E-04 None None None None N None 0 2.67035E-03 None 0 0 None 0 None 0 3.26E-05 2.11416E-03
C/G rs537312655 -2.55 0.012 D 0.724 0.121 0.507628581994 gnomAD-3.1.2 4.13929E-04 None None None None N None 0 3.99424E-03 0 0 0 None 0 0 2.94E-05 0 0
C/G rs537312655 -2.55 0.012 D 0.724 0.121 0.507628581994 gnomAD-4.0.0 1.16669E-04 None None None None N None 0 2.8678E-03 None 0 0 None 0 0 1.19448E-05 0 1.46294E-04

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 0.1217 likely_benign 0.1586 benign -1.622 Destabilizing 0.007 N 0.393 neutral None None None None N
C/D 0.4622 ambiguous 0.5403 ambiguous 0.255 Stabilizing 0.038 N 0.751 deleterious None None None None N
C/E 0.6996 likely_pathogenic 0.7551 pathogenic 0.339 Stabilizing 0.038 N 0.747 deleterious None None None None N
C/F 0.1804 likely_benign 0.1977 benign -1.106 Destabilizing 0.295 N 0.752 deleterious D 0.633461606 None None N
C/G 0.0873 likely_benign 0.0979 benign -1.907 Destabilizing 0.012 N 0.724 prob.delet. D 0.530789164 None None N
C/H 0.3531 ambiguous 0.3815 ambiguous -1.89 Destabilizing 0.356 N 0.745 deleterious None None None None N
C/I 0.2509 likely_benign 0.3192 benign -0.904 Destabilizing 0.038 N 0.735 prob.delet. None None None None N
C/K 0.6374 likely_pathogenic 0.6791 pathogenic -0.468 Destabilizing 0.038 N 0.749 deleterious None None None None N
C/L 0.2432 likely_benign 0.3002 benign -0.904 Destabilizing 0.016 N 0.695 prob.neutral None None None None N
C/M 0.3963 ambiguous 0.4753 ambiguous -0.223 Destabilizing 0.356 N 0.733 prob.delet. None None None None N
C/N 0.2317 likely_benign 0.2919 benign -0.379 Destabilizing 0.038 N 0.751 deleterious None None None None N
C/P 0.8569 likely_pathogenic 0.9146 pathogenic -1.118 Destabilizing 0.072 N 0.763 deleterious None None None None N
C/Q 0.5123 ambiguous 0.547 ambiguous -0.318 Destabilizing 0.214 N 0.774 deleterious None None None None N
C/R 0.3701 ambiguous 0.3756 ambiguous -0.415 Destabilizing 0.171 N 0.773 deleterious D 0.529001762 None None N
C/S 0.0611 likely_benign 0.071 benign -0.987 Destabilizing None N 0.403 neutral N 0.455137968 None None N
C/T 0.0988 likely_benign 0.1304 benign -0.714 Destabilizing None N 0.413 neutral None None None None N
C/V 0.2079 likely_benign 0.2574 benign -1.118 Destabilizing 0.016 N 0.705 prob.neutral None None None None N
C/W 0.4077 ambiguous 0.4597 ambiguous -1.027 Destabilizing 0.828 D 0.713 prob.delet. D 0.6056504 None None N
C/Y 0.2166 likely_benign 0.2451 benign -0.996 Destabilizing 0.295 N 0.748 deleterious D 0.576509501 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.