Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC33550100873;100874;100875 chr2:178536099;178536098;178536097chr2:179400826;179400825;179400824
N2AB3190995950;95951;95952 chr2:178536099;178536098;178536097chr2:179400826;179400825;179400824
N2A3098293169;93170;93171 chr2:178536099;178536098;178536097chr2:179400826;179400825;179400824
N2B2448573678;73679;73680 chr2:178536099;178536098;178536097chr2:179400826;179400825;179400824
Novex-12461074053;74054;74055 chr2:178536099;178536098;178536097chr2:179400826;179400825;179400824
Novex-22467774254;74255;74256 chr2:178536099;178536098;178536097chr2:179400826;179400825;179400824
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: G
  • RefSeq wild type transcript codon: GGT
  • RefSeq wild type template codon: CCA
  • Domain: Ig-158
  • Domain position: 55
  • Structural Position: 131
  • Q(SASA): 0.3711
  • 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
G/D rs370253076 -0.268 1.0 N 0.663 0.595 None gnomAD-2.1.1 4.03E-06 None None None None N None 0 2.91E-05 None 0 0 None 0 None 0 0 0
G/D rs370253076 -0.268 1.0 N 0.663 0.595 None gnomAD-3.1.2 6.57E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
G/D rs370253076 -0.268 1.0 N 0.663 0.595 None gnomAD-4.0.0 2.56736E-06 None None None None N None 1.69342E-05 1.69543E-05 None 0 0 None 0 0 0 0 0
G/S rs775985787 -0.593 1.0 D 0.68 0.63 0.511790803624 gnomAD-2.1.1 1.07E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.35E-05 0
G/S rs775985787 -0.593 1.0 D 0.68 0.63 0.511790803624 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
G/S rs775985787 -0.593 1.0 D 0.68 0.63 0.511790803624 gnomAD-4.0.0 1.86106E-06 None None None None N None 0 0 None 0 0 None 0 0 2.54542E-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
G/A 0.6925 likely_pathogenic 0.5021 ambiguous -0.256 Destabilizing 1.0 D 0.635 neutral D 0.567317718 None None N
G/C 0.9171 likely_pathogenic 0.8058 pathogenic -0.797 Destabilizing 1.0 D 0.681 prob.neutral D 0.56689742 None None N
G/D 0.9262 likely_pathogenic 0.7221 pathogenic -0.468 Destabilizing 1.0 D 0.663 neutral N 0.512316971 None None N
G/E 0.9681 likely_pathogenic 0.8531 pathogenic -0.605 Destabilizing 1.0 D 0.694 prob.neutral None None None None N
G/F 0.982 likely_pathogenic 0.9613 pathogenic -0.895 Destabilizing 1.0 D 0.655 neutral None None None None N
G/H 0.9831 likely_pathogenic 0.9376 pathogenic -0.453 Destabilizing 1.0 D 0.669 neutral None None None None N
G/I 0.9638 likely_pathogenic 0.9083 pathogenic -0.325 Destabilizing 1.0 D 0.661 neutral None None None None N
G/K 0.9914 likely_pathogenic 0.9695 pathogenic -0.772 Destabilizing 1.0 D 0.695 prob.neutral None None None None N
G/L 0.9692 likely_pathogenic 0.9271 pathogenic -0.325 Destabilizing 1.0 D 0.687 prob.neutral None None None None N
G/M 0.9751 likely_pathogenic 0.929 pathogenic -0.53 Destabilizing 1.0 D 0.677 prob.neutral None None None None N
G/N 0.903 likely_pathogenic 0.699 pathogenic -0.405 Destabilizing 1.0 D 0.659 neutral None None None None N
G/P 0.9921 likely_pathogenic 0.9741 pathogenic -0.268 Destabilizing 1.0 D 0.687 prob.neutral None None None None N
G/Q 0.9773 likely_pathogenic 0.9154 pathogenic -0.643 Destabilizing 1.0 D 0.687 prob.neutral None None None None N
G/R 0.9824 likely_pathogenic 0.9413 pathogenic -0.362 Destabilizing 1.0 D 0.684 prob.neutral D 0.542439769 None None N
G/S 0.6487 likely_pathogenic 0.3911 ambiguous -0.57 Destabilizing 1.0 D 0.68 prob.neutral D 0.553713067 None None N
G/T 0.8886 likely_pathogenic 0.6994 pathogenic -0.631 Destabilizing 1.0 D 0.693 prob.neutral None None None None N
G/V 0.926 likely_pathogenic 0.823 pathogenic -0.268 Destabilizing 1.0 D 0.693 prob.neutral D 0.55047445 None None N
G/W 0.9701 likely_pathogenic 0.9186 pathogenic -1.081 Destabilizing 1.0 D 0.682 prob.neutral None None None None N
G/Y 0.968 likely_pathogenic 0.9129 pathogenic -0.713 Destabilizing 1.0 D 0.655 neutral 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.