Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2660780044;80045;80046 chr2:178566313;178566312;178566311chr2:179431040;179431039;179431038
N2AB2496675121;75122;75123 chr2:178566313;178566312;178566311chr2:179431040;179431039;179431038
N2A2403972340;72341;72342 chr2:178566313;178566312;178566311chr2:179431040;179431039;179431038
N2B1754252849;52850;52851 chr2:178566313;178566312;178566311chr2:179431040;179431039;179431038
Novex-11766753224;53225;53226 chr2:178566313;178566312;178566311chr2:179431040;179431039;179431038
Novex-21773453425;53426;53427 chr2:178566313;178566312;178566311chr2:179431040;179431039;179431038
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-138
  • Domain position: 14
  • Structural Position: 24
  • Q(SASA): 0.4754
  • 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
G/V None None 1.0 D 0.809 0.822 0.855096733437 gnomAD-4.0.0 1.59149E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85878E-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 0.4796 ambiguous 0.3925 ambiguous -0.206 Destabilizing 1.0 D 0.761 deleterious D 0.633112553 None None I
G/C 0.5763 likely_pathogenic 0.496 ambiguous -0.803 Destabilizing 1.0 D 0.81 deleterious D 0.608412019 None None I
G/D 0.8684 likely_pathogenic 0.7947 pathogenic -0.604 Destabilizing 1.0 D 0.845 deleterious D 0.592030128 None None I
G/E 0.8864 likely_pathogenic 0.8111 pathogenic -0.78 Destabilizing 1.0 D 0.825 deleterious None None None None I
G/F 0.9404 likely_pathogenic 0.9069 pathogenic -1.067 Destabilizing 1.0 D 0.815 deleterious None None None None I
G/H 0.8773 likely_pathogenic 0.806 pathogenic -0.403 Destabilizing 1.0 D 0.805 deleterious None None None None I
G/I 0.9422 likely_pathogenic 0.9023 pathogenic -0.448 Destabilizing 1.0 D 0.817 deleterious None None None None I
G/K 0.9026 likely_pathogenic 0.8237 pathogenic -0.587 Destabilizing 1.0 D 0.822 deleterious None None None None I
G/L 0.8984 likely_pathogenic 0.8489 pathogenic -0.448 Destabilizing 1.0 D 0.811 deleterious None None None None I
G/M 0.9046 likely_pathogenic 0.8521 pathogenic -0.386 Destabilizing 1.0 D 0.809 deleterious None None None None I
G/N 0.7597 likely_pathogenic 0.678 pathogenic -0.272 Destabilizing 1.0 D 0.817 deleterious None None None None I
G/P 0.992 likely_pathogenic 0.9886 pathogenic -0.338 Destabilizing 1.0 D 0.843 deleterious None None None None I
G/Q 0.8111 likely_pathogenic 0.7154 pathogenic -0.596 Destabilizing 1.0 D 0.838 deleterious None None None None I
G/R 0.779 likely_pathogenic 0.6523 pathogenic -0.138 Destabilizing 1.0 D 0.849 deleterious D 0.649565883 None None I
G/S 0.3231 likely_benign 0.2591 benign -0.384 Destabilizing 1.0 D 0.804 deleterious D 0.575333915 None None I
G/T 0.681 likely_pathogenic 0.5898 pathogenic -0.498 Destabilizing 1.0 D 0.823 deleterious None None None None I
G/V 0.8772 likely_pathogenic 0.8073 pathogenic -0.338 Destabilizing 1.0 D 0.809 deleterious D 0.649767687 None None I
G/W 0.9054 likely_pathogenic 0.8507 pathogenic -1.182 Destabilizing 1.0 D 0.816 deleterious None None None None I
G/Y 0.9038 likely_pathogenic 0.8542 pathogenic -0.832 Destabilizing 1.0 D 0.817 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.