Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC14884687;4688;4689 chr2:178777722;178777721;178777720chr2:179642449;179642448;179642447
N2AB14884687;4688;4689 chr2:178777722;178777721;178777720chr2:179642449;179642448;179642447
N2A14884687;4688;4689 chr2:178777722;178777721;178777720chr2:179642449;179642448;179642447
N2B14424549;4550;4551 chr2:178777722;178777721;178777720chr2:179642449;179642448;179642447
Novex-114424549;4550;4551 chr2:178777722;178777721;178777720chr2:179642449;179642448;179642447
Novex-214424549;4550;4551 chr2:178777722;178777721;178777720chr2:179642449;179642448;179642447
Novex-314884687;4688;4689 chr2:178777722;178777721;178777720chr2:179642449;179642448;179642447

Information

  • RefSeq wild type amino acid: T
  • RefSeq wild type transcript codon: ACG
  • RefSeq wild type template codon: TGC
  • Domain: Ig-6
  • Domain position: 32
  • Structural Position: 46
  • Q(SASA): 0.2496
  • 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
T/A rs146732280 -0.811 0.999 N 0.572 0.477 None gnomAD-2.1.1 1.77E-05 None None None None I None 8.01E-05 0 None 0 0 None 0 None 0 2.33E-05 0
T/A rs146732280 -0.811 0.999 N 0.572 0.477 None gnomAD-3.1.2 5.91E-05 None None None None I None 4.82E-05 0 0 0 0 None 0 0 1.02887E-04 0 0
T/A rs146732280 -0.811 0.999 N 0.572 0.477 None gnomAD-4.0.0 9.91332E-05 None None None None I None 4.00342E-05 0 None 0 0 None 0 0 1.29664E-04 0 6.40164E-05
T/K None -0.747 1.0 N 0.799 0.687 0.587508425673 gnomAD-2.1.1 3.99E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 0 0
T/K None -0.747 1.0 N 0.799 0.687 0.587508425673 gnomAD-4.0.0 6.84118E-07 None None None None I None 0 0 None 0 0 None 0 0 0 1.15934E-05 0
T/M rs111282958 0.095 1.0 N 0.794 0.548 None gnomAD-2.1.1 1.77E-05 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 2.33E-05 1.38696E-04
T/M rs111282958 0.095 1.0 N 0.794 0.548 None gnomAD-3.1.2 3.29E-05 None None None None I None 4.83E-05 6.55E-05 0 0 0 None 0 0 2.94E-05 0 0
T/M rs111282958 0.095 1.0 N 0.794 0.548 None 1000 genomes 1.99681E-04 None None None None I None 8E-04 0 None None 0 0 None None None 0 None
T/M rs111282958 0.095 1.0 N 0.794 0.548 None gnomAD-4.0.0 7.00113E-05 None None None None I None 6.66507E-05 1.66644E-05 None 0 2.22826E-05 None 0 0 8.89858E-05 1.09798E-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
T/A 0.2879 likely_benign 0.2961 benign -0.824 Destabilizing 0.999 D 0.572 neutral N 0.506700863 None None I
T/C 0.7092 likely_pathogenic 0.7064 pathogenic -0.528 Destabilizing 1.0 D 0.78 deleterious None None None None I
T/D 0.9586 likely_pathogenic 0.9546 pathogenic -0.783 Destabilizing 1.0 D 0.799 deleterious None None None None I
T/E 0.9517 likely_pathogenic 0.95 pathogenic -0.612 Destabilizing 1.0 D 0.806 deleterious None None None None I
T/F 0.8127 likely_pathogenic 0.7991 pathogenic -0.705 Destabilizing 1.0 D 0.853 deleterious None None None None I
T/G 0.8223 likely_pathogenic 0.8142 pathogenic -1.194 Destabilizing 1.0 D 0.829 deleterious None None None None I
T/H 0.8825 likely_pathogenic 0.8697 pathogenic -1.178 Destabilizing 1.0 D 0.84 deleterious None None None None I
T/I 0.3605 ambiguous 0.3679 ambiguous 0.13 Stabilizing 1.0 D 0.789 deleterious None None None None I
T/K 0.9268 likely_pathogenic 0.9203 pathogenic -0.301 Destabilizing 1.0 D 0.799 deleterious N 0.501546609 None None I
T/L 0.2812 likely_benign 0.2821 benign 0.13 Stabilizing 0.999 D 0.727 prob.delet. None None None None I
T/M 0.2201 likely_benign 0.2167 benign None Stabilizing 1.0 D 0.794 deleterious N 0.509067921 None None I
T/N 0.5836 likely_pathogenic 0.5685 pathogenic -0.892 Destabilizing 1.0 D 0.743 deleterious None None None None I
T/P 0.6152 likely_pathogenic 0.6536 pathogenic -0.157 Destabilizing 1.0 D 0.779 deleterious N 0.504903406 None None I
T/Q 0.8954 likely_pathogenic 0.8888 pathogenic -0.693 Destabilizing 1.0 D 0.777 deleterious None None None None I
T/R 0.9091 likely_pathogenic 0.9004 pathogenic -0.411 Destabilizing 1.0 D 0.776 deleterious N 0.50932901 None None I
T/S 0.4457 ambiguous 0.4391 ambiguous -1.179 Destabilizing 0.999 D 0.577 neutral N 0.504396575 None None I
T/V 0.2568 likely_benign 0.2661 benign -0.157 Destabilizing 0.999 D 0.611 neutral None None None None I
T/W 0.9698 likely_pathogenic 0.9673 pathogenic -0.864 Destabilizing 1.0 D 0.819 deleterious None None None None I
T/Y 0.844 likely_pathogenic 0.834 pathogenic -0.456 Destabilizing 1.0 D 0.855 deleterious None None 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.