Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC17555488;5489;5490 chr2:178776601;178776600;178776599chr2:179641328;179641327;179641326
N2AB17555488;5489;5490 chr2:178776601;178776600;178776599chr2:179641328;179641327;179641326
N2A17555488;5489;5490 chr2:178776601;178776600;178776599chr2:179641328;179641327;179641326
N2B17095350;5351;5352 chr2:178776601;178776600;178776599chr2:179641328;179641327;179641326
Novex-117095350;5351;5352 chr2:178776601;178776600;178776599chr2:179641328;179641327;179641326
Novex-217095350;5351;5352 chr2:178776601;178776600;178776599chr2:179641328;179641327;179641326
Novex-317555488;5489;5490 chr2:178776601;178776600;178776599chr2:179641328;179641327;179641326

Information

  • RefSeq wild type amino acid: N
  • RefSeq wild type transcript codon: AAT
  • RefSeq wild type template codon: TTA
  • Domain: Ig-8
  • Domain position: 53
  • Structural Position: 127
  • Q(SASA): 0.4782
  • 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
N/D None None 0.999 N 0.771 0.521 0.322786055943 gnomAD-4.0.0 1.59077E-06 None None None None I None 0 0 None 0 0 None 0 0 0 0 3.02151E-05
N/H rs559024675 -0.58 1.0 N 0.723 0.501 0.28297238246 gnomAD-2.1.1 3.99E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.83E-06 0
N/H rs559024675 -0.58 1.0 N 0.723 0.501 0.28297238246 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
N/H rs559024675 -0.58 1.0 N 0.723 0.501 0.28297238246 1000 genomes 1.99681E-04 None None None None I None 0 0 None None 0 1E-03 None None None 0 None
N/H rs559024675 -0.58 1.0 N 0.723 0.501 0.28297238246 gnomAD-4.0.0 6.56478E-06 None None None None I None 0 0 None 0 0 None 0 0 1.4699E-05 0 0
N/S rs201904897 0.093 0.999 N 0.741 0.43 None gnomAD-2.1.1 4.25E-05 None None None None I None 4.01E-05 0 None 0 0 None 0 None 0 8.55E-05 0
N/S rs201904897 0.093 0.999 N 0.741 0.43 None gnomAD-3.1.2 3.94E-05 None None None None I None 2.41E-05 0 0 0 0 None 0 0 7.35E-05 0 0
N/S rs201904897 0.093 0.999 N 0.741 0.43 None 1000 genomes 1.99681E-04 None None None None I None 0 0 None None 0 1E-03 None None None 0 None
N/S rs201904897 0.093 0.999 N 0.741 0.43 None gnomAD-4.0.0 5.32817E-05 None None None None I None 2.66496E-05 0 None 0 0 None 0 0 6.94913E-05 0 3.19949E-05

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
N/A 0.7893 likely_pathogenic 0.7801 pathogenic -0.405 Destabilizing 1.0 D 0.727 prob.delet. None None None None I
N/C 0.7566 likely_pathogenic 0.7344 pathogenic 0.371 Stabilizing 1.0 D 0.715 prob.delet. None None None None I
N/D 0.6173 likely_pathogenic 0.6505 pathogenic -0.044 Destabilizing 0.999 D 0.771 deleterious N 0.511401101 None None I
N/E 0.9069 likely_pathogenic 0.9093 pathogenic -0.046 Destabilizing 0.999 D 0.761 deleterious None None None None I
N/F 0.9479 likely_pathogenic 0.9422 pathogenic -0.574 Destabilizing 1.0 D 0.738 prob.delet. None None None None I
N/G 0.7127 likely_pathogenic 0.7292 pathogenic -0.639 Destabilizing 0.999 D 0.728 prob.delet. None None None None I
N/H 0.3625 ambiguous 0.3289 benign -0.681 Destabilizing 1.0 D 0.723 prob.delet. N 0.452454441 None None I
N/I 0.8807 likely_pathogenic 0.8822 pathogenic 0.138 Stabilizing 1.0 D 0.763 deleterious D 0.58910777 None None I
N/K 0.9225 likely_pathogenic 0.9351 pathogenic 0.006 Stabilizing 1.0 D 0.763 deleterious N 0.506630887 None None I
N/L 0.7807 likely_pathogenic 0.7801 pathogenic 0.138 Stabilizing 1.0 D 0.765 deleterious None None None None I
N/M 0.8745 likely_pathogenic 0.8641 pathogenic 0.537 Stabilizing 1.0 D 0.714 prob.delet. None None None None I
N/P 0.9344 likely_pathogenic 0.927 pathogenic -0.014 Destabilizing 1.0 D 0.755 deleterious None None None None I
N/Q 0.8101 likely_pathogenic 0.7922 pathogenic -0.453 Destabilizing 1.0 D 0.728 prob.delet. None None None None I
N/R 0.8844 likely_pathogenic 0.8957 pathogenic None Stabilizing 1.0 D 0.761 deleterious None None None None I
N/S 0.1519 likely_benign 0.1481 benign -0.26 Destabilizing 0.999 D 0.741 deleterious N 0.489462684 None None I
N/T 0.474 ambiguous 0.484 ambiguous -0.104 Destabilizing 0.999 D 0.76 deleterious N 0.508561728 None None I
N/V 0.8419 likely_pathogenic 0.8359 pathogenic -0.014 Destabilizing 1.0 D 0.749 deleterious None None None None I
N/W 0.9695 likely_pathogenic 0.963 pathogenic -0.488 Destabilizing 1.0 D 0.715 prob.delet. None None None None I
N/Y 0.6523 likely_pathogenic 0.624 pathogenic -0.246 Destabilizing 1.0 D 0.741 deleterious N 0.510080743 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.