Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2903787334;87335;87336 chr2:178558350;178558349;178558348chr2:179423077;179423076;179423075
N2AB2739682411;82412;82413 chr2:178558350;178558349;178558348chr2:179423077;179423076;179423075
N2A2646979630;79631;79632 chr2:178558350;178558349;178558348chr2:179423077;179423076;179423075
N2B1997260139;60140;60141 chr2:178558350;178558349;178558348chr2:179423077;179423076;179423075
Novex-12009760514;60515;60516 chr2:178558350;178558349;178558348chr2:179423077;179423076;179423075
Novex-22016460715;60716;60717 chr2:178558350;178558349;178558348chr2:179423077;179423076;179423075
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: E
  • RefSeq wild type transcript codon: GAG
  • RefSeq wild type template codon: CTC
  • Domain: Fn3-99
  • Domain position: 96
  • Structural Position: 132
  • Q(SASA): 0.937
  • 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
E/G None None 0.115 N 0.649 0.305 0.39798585902 gnomAD-4.0.0 1.59821E-06 None None None None N None 0 0 None 0 2.78474E-05 None 0 0 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
E/A 0.2173 likely_benign 0.2224 benign -0.228 Destabilizing 0.115 N 0.694 prob.delet. N 0.486014959 None None N
E/C 0.8957 likely_pathogenic 0.8916 pathogenic -0.092 Destabilizing 0.934 D 0.843 deleterious None None None None N
E/D 0.0753 likely_benign 0.0739 benign -0.256 Destabilizing None N 0.248 neutral N 0.392987367 None None N
E/F 0.8848 likely_pathogenic 0.8802 pathogenic -0.123 Destabilizing 0.789 D 0.721 deleterious None None None None N
E/G 0.1895 likely_benign 0.1968 benign -0.403 Destabilizing 0.115 N 0.649 prob.neutral N 0.491453228 None None N
E/H 0.6139 likely_pathogenic 0.6046 pathogenic 0.243 Stabilizing 0.552 D 0.588 neutral None None None None N
E/I 0.6342 likely_pathogenic 0.6406 pathogenic 0.192 Stabilizing 0.552 D 0.763 deleterious None None None None N
E/K 0.3677 ambiguous 0.3582 ambiguous 0.383 Stabilizing 0.115 N 0.677 prob.neutral N 0.489932291 None None N
E/L 0.5824 likely_pathogenic 0.5784 pathogenic 0.192 Stabilizing 0.378 N 0.743 deleterious None None None None N
E/M 0.6552 likely_pathogenic 0.666 pathogenic 0.142 Stabilizing 0.934 D 0.745 deleterious None None None None N
E/N 0.2355 likely_benign 0.2285 benign 0.091 Stabilizing 0.08 N 0.692 prob.delet. None None None None N
E/P 0.5011 ambiguous 0.4773 ambiguous 0.072 Stabilizing 0.552 D 0.687 prob.delet. None None None None N
E/Q 0.2116 likely_benign 0.2191 benign 0.118 Stabilizing 0.115 N 0.602 neutral N 0.484109394 None None N
E/R 0.5329 ambiguous 0.5169 ambiguous 0.616 Stabilizing 0.378 N 0.679 prob.neutral None None None None N
E/S 0.2339 likely_benign 0.2381 benign -0.075 Destabilizing 0.08 N 0.682 prob.neutral None None None None N
E/T 0.3727 ambiguous 0.3789 ambiguous 0.071 Stabilizing 0.147 N 0.695 prob.delet. None None None None N
E/V 0.398 ambiguous 0.3963 ambiguous 0.072 Stabilizing 0.481 N 0.637 neutral N 0.503316512 None None N
E/W 0.9429 likely_pathogenic 0.9429 pathogenic 0.003 Stabilizing 0.934 D 0.868 deleterious None None None None N
E/Y 0.7293 likely_pathogenic 0.7125 pathogenic 0.119 Stabilizing 0.789 D 0.719 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.