Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3001990280;90281;90282 chr2:178552845;178552844;178552843chr2:179417572;179417571;179417570
N2AB2837885357;85358;85359 chr2:178552845;178552844;178552843chr2:179417572;179417571;179417570
N2A2745182576;82577;82578 chr2:178552845;178552844;178552843chr2:179417572;179417571;179417570
N2B2095463085;63086;63087 chr2:178552845;178552844;178552843chr2:179417572;179417571;179417570
Novex-12107963460;63461;63462 chr2:178552845;178552844;178552843chr2:179417572;179417571;179417570
Novex-22114663661;63662;63663 chr2:178552845;178552844;178552843chr2:179417572;179417571;179417570
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: C
  • RefSeq wild type transcript codon: TGT
  • RefSeq wild type template codon: ACA
  • Domain: Fn3-106
  • Domain position: 87
  • Structural Position: 121
  • Q(SASA): 0.1233
  • Predicted PPI site: I

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/R rs774538632 -1.066 0.966 N 0.869 0.336 0.714032942311 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 0 0
C/R rs774538632 -1.066 0.966 N 0.869 0.336 0.714032942311 gnomAD-4.0.0 1.59129E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43283E-05 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 0.3557 ambiguous 0.289 benign -1.664 Destabilizing 0.016 N 0.317 neutral None None None None I
C/D 0.8548 likely_pathogenic 0.8075 pathogenic -0.614 Destabilizing 0.974 D 0.863 deleterious None None None None I
C/E 0.8463 likely_pathogenic 0.8054 pathogenic -0.484 Destabilizing 0.949 D 0.865 deleterious None None None None I
C/F 0.3214 likely_benign 0.2798 benign -1.037 Destabilizing 0.989 D 0.776 deleterious N 0.472121891 None None I
C/G 0.2829 likely_benign 0.2366 benign -1.991 Destabilizing 0.666 D 0.797 deleterious N 0.475762601 None None I
C/H 0.6561 likely_pathogenic 0.5941 pathogenic -2.125 Highly Destabilizing 0.998 D 0.841 deleterious None None None None I
C/I 0.5161 ambiguous 0.4657 ambiguous -0.818 Destabilizing 0.949 D 0.723 deleterious None None None None I
C/K 0.8401 likely_pathogenic 0.7925 pathogenic -0.974 Destabilizing 0.949 D 0.836 deleterious None None None None I
C/L 0.5366 ambiguous 0.486 ambiguous -0.818 Destabilizing 0.841 D 0.643 neutral None None None None I
C/M 0.6463 likely_pathogenic 0.6026 pathogenic -0.031 Destabilizing 0.998 D 0.668 prob.neutral None None None None I
C/N 0.6766 likely_pathogenic 0.6295 pathogenic -1.056 Destabilizing 0.974 D 0.875 deleterious None None None None I
C/P 0.9884 likely_pathogenic 0.9838 pathogenic -1.074 Destabilizing 0.974 D 0.872 deleterious None None None None I
C/Q 0.6395 likely_pathogenic 0.5702 pathogenic -0.908 Destabilizing 0.974 D 0.863 deleterious None None None None I
C/R 0.4725 ambiguous 0.4138 ambiguous -0.994 Destabilizing 0.966 D 0.869 deleterious N 0.473685088 None None I
C/S 0.3134 likely_benign 0.2646 benign -1.553 Destabilizing 0.666 D 0.683 prob.neutral N 0.36637033 None None I
C/T 0.458 ambiguous 0.4018 ambiguous -1.235 Destabilizing 0.841 D 0.717 prob.delet. None None None None I
C/V 0.4004 ambiguous 0.3626 ambiguous -1.074 Destabilizing 0.725 D 0.683 prob.neutral None None None None I
C/W 0.6621 likely_pathogenic 0.6215 pathogenic -1.113 Destabilizing 0.997 D 0.786 deleterious N 0.472375381 None None I
C/Y 0.4356 ambiguous 0.3998 ambiguous -1.04 Destabilizing 0.989 D 0.787 deleterious N 0.460765586 None None I

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.