Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1546246609;46610;46611 chr2:178620033;178620032;178620031chr2:179484760;179484759;179484758
N2AB1382141686;41687;41688 chr2:178620033;178620032;178620031chr2:179484760;179484759;179484758
N2A1289438905;38906;38907 chr2:178620033;178620032;178620031chr2:179484760;179484759;179484758
N2B639719414;19415;19416 chr2:178620033;178620032;178620031chr2:179484760;179484759;179484758
Novex-1652219789;19790;19791 chr2:178620033;178620032;178620031chr2:179484760;179484759;179484758
Novex-2658919990;19991;19992 chr2:178620033;178620032;178620031chr2:179484760;179484759;179484758
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-106
  • Domain position: 72
  • Structural Position: 156
  • Q(SASA): 0.0753
  • Site annotation: disulfide
  • 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/W None None 1.0 D 0.864 0.821 0.859364730717 gnomAD-4.0.0 6.84994E-07 None None disulfide None N None 0 0 None 0 0 None 0 0 9.0019E-07 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 0.8731 likely_pathogenic 0.8573 pathogenic -1.381 Destabilizing 0.998 D 0.674 neutral None None disulfide None N
C/D 0.9996 likely_pathogenic 0.9995 pathogenic -1.446 Destabilizing 1.0 D 0.877 deleterious None None disulfide None N
C/E 0.9996 likely_pathogenic 0.9996 pathogenic -1.188 Destabilizing 1.0 D 0.888 deleterious None None disulfide None N
C/F 0.8239 likely_pathogenic 0.8516 pathogenic -0.767 Destabilizing 1.0 D 0.877 deleterious D 0.539290792 disulfide None N
C/G 0.9155 likely_pathogenic 0.9129 pathogenic -1.75 Destabilizing 1.0 D 0.861 deleterious D 0.72380464 disulfide None N
C/H 0.998 likely_pathogenic 0.998 pathogenic -1.908 Destabilizing 1.0 D 0.877 deleterious None None disulfide None N
C/I 0.8658 likely_pathogenic 0.8981 pathogenic -0.373 Destabilizing 1.0 D 0.823 deleterious None None disulfide None N
C/K 0.9996 likely_pathogenic 0.9996 pathogenic -0.822 Destabilizing 1.0 D 0.878 deleterious None None disulfide None N
C/L 0.8366 likely_pathogenic 0.8793 pathogenic -0.373 Destabilizing 0.999 D 0.745 deleterious None None disulfide None N
C/M 0.9475 likely_pathogenic 0.9631 pathogenic 0.296 Stabilizing 1.0 D 0.835 deleterious None None disulfide None N
C/N 0.9979 likely_pathogenic 0.9978 pathogenic -1.58 Destabilizing 1.0 D 0.888 deleterious None None disulfide None N
C/P 0.9991 likely_pathogenic 0.999 pathogenic -0.688 Destabilizing 1.0 D 0.886 deleterious None None disulfide None N
C/Q 0.9986 likely_pathogenic 0.9988 pathogenic -1.048 Destabilizing 1.0 D 0.895 deleterious None None disulfide None N
C/R 0.9955 likely_pathogenic 0.9952 pathogenic -1.335 Destabilizing 1.0 D 0.892 deleterious D 0.72380464 disulfide None N
C/S 0.9665 likely_pathogenic 0.9621 pathogenic -1.827 Destabilizing 1.0 D 0.809 deleterious D 0.72380464 disulfide None N
C/T 0.9677 likely_pathogenic 0.9655 pathogenic -1.38 Destabilizing 1.0 D 0.813 deleterious None None disulfide None N
C/V 0.7002 likely_pathogenic 0.7361 pathogenic -0.688 Destabilizing 0.999 D 0.789 deleterious None None disulfide None N
C/W 0.9914 likely_pathogenic 0.9927 pathogenic -1.199 Destabilizing 1.0 D 0.864 deleterious D 0.72380464 disulfide None N
C/Y 0.9811 likely_pathogenic 0.9841 pathogenic -0.96 Destabilizing 1.0 D 0.891 deleterious D 0.64085871 disulfide 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.