Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC821724874;24875;24876 chr2:178718457;178718456;178718455chr2:179583184;179583183;179583182
N2AB790023923;23924;23925 chr2:178718457;178718456;178718455chr2:179583184;179583183;179583182
N2A697321142;21143;21144 chr2:178718457;178718456;178718455chr2:179583184;179583183;179583182
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-67
  • Domain position: 47
  • Structural Position: 121
  • Q(SASA): 0.1293
  • 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/R None None 0.016 N 0.485 0.382 0.719995979321 gnomAD-4.0.0 1.59134E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85842E-06 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 0.5541 ambiguous 0.5523 ambiguous -1.507 Destabilizing 0.38 N 0.387 neutral None None None None N
C/D 0.8866 likely_pathogenic 0.8935 pathogenic -0.133 Destabilizing 0.584 D 0.603 neutral None None None None N
C/E 0.8929 likely_pathogenic 0.9021 pathogenic -0.032 Destabilizing 0.037 N 0.483 neutral None None None None N
C/F 0.2495 likely_benign 0.2638 benign -1.037 Destabilizing 0.719 D 0.673 neutral N 0.482107862 None None N
C/G 0.341 ambiguous 0.364 ambiguous -1.806 Destabilizing 0.679 D 0.585 neutral N 0.48979416 None None N
C/H 0.5789 likely_pathogenic 0.5904 pathogenic -2.001 Highly Destabilizing 0.96 D 0.684 prob.neutral None None None None N
C/I 0.4967 ambiguous 0.5112 ambiguous -0.75 Destabilizing 0.932 D 0.627 neutral None None None None N
C/K 0.8722 likely_pathogenic 0.8783 pathogenic -0.644 Destabilizing 0.037 N 0.483 neutral None None None None N
C/L 0.544 ambiguous 0.5707 pathogenic -0.75 Destabilizing 0.737 D 0.545 neutral None None None None N
C/M 0.691 likely_pathogenic 0.6971 pathogenic -0.04 Destabilizing 0.993 D 0.658 neutral None None None None N
C/N 0.6628 likely_pathogenic 0.6869 pathogenic -0.643 Destabilizing 0.872 D 0.635 neutral None None None None N
C/P 0.9872 likely_pathogenic 0.9871 pathogenic -0.975 Destabilizing 0.932 D 0.68 prob.neutral None None None None N
C/Q 0.7308 likely_pathogenic 0.7409 pathogenic -0.539 Destabilizing 0.872 D 0.65 neutral None None None None N
C/R 0.5901 likely_pathogenic 0.6017 pathogenic -0.678 Destabilizing 0.016 N 0.485 neutral N 0.5081611 None None N
C/S 0.4099 ambiguous 0.4179 ambiguous -1.162 Destabilizing 0.077 N 0.381 neutral D 0.523071837 None None N
C/T 0.5367 ambiguous 0.5435 ambiguous -0.872 Destabilizing 0.584 D 0.565 neutral None None None None N
C/V 0.4542 ambiguous 0.4527 ambiguous -0.975 Destabilizing 0.737 D 0.567 neutral None None None None N
C/W 0.5964 likely_pathogenic 0.5969 pathogenic -1.064 Destabilizing 0.993 D 0.645 neutral N 0.490808118 None None N
C/Y 0.2904 likely_benign 0.3113 benign -0.987 Destabilizing 0.064 N 0.47 neutral N 0.415690869 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.