Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC329010093;10094;10095 chr2:178764647;178764646;178764645chr2:179629374;179629373;179629372
N2AB329010093;10094;10095 chr2:178764647;178764646;178764645chr2:179629374;179629373;179629372
N2A329010093;10094;10095 chr2:178764647;178764646;178764645chr2:179629374;179629373;179629372
N2B32449955;9956;9957 chr2:178764647;178764646;178764645chr2:179629374;179629373;179629372
Novex-132449955;9956;9957 chr2:178764647;178764646;178764645chr2:179629374;179629373;179629372
Novex-232449955;9956;9957 chr2:178764647;178764646;178764645chr2:179629374;179629373;179629372
Novex-3329010093;10094;10095 chr2:178764647;178764646;178764645chr2:179629374;179629373;179629372

Information

  • RefSeq wild type amino acid: D
  • RefSeq wild type transcript codon: GAT
  • RefSeq wild type template codon: CTA
  • Domain: Ig-23
  • Domain position: 52
  • Structural Position: 130
  • Q(SASA): 0.8637
  • 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
D/E rs727503680 None 0.619 N 0.255 0.22 0.362758974969 gnomAD-4.0.0 6.84073E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99297E-06 0 0
D/G rs2090030791 None 0.996 N 0.602 0.629 0.48087575253 gnomAD-4.0.0 1.59052E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85652E-06 0 0
D/H rs750489067 0.344 1.0 D 0.677 0.604 0.609617904835 gnomAD-2.1.1 2.39E-05 None None None None N None 0 2.89E-05 None 0 0 None 0 None 0 3.53E-05 1.63185E-04
D/H rs750489067 0.344 1.0 D 0.677 0.604 0.609617904835 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
D/H rs750489067 0.344 1.0 D 0.677 0.604 0.609617904835 gnomAD-4.0.0 3.71752E-05 None None None None N None 0 1.66667E-05 None 0 0 None 0 0 5E-05 0 0
D/Y rs750489067 0.322 1.0 D 0.713 0.653 0.806559599631 gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 0 5.44E-05 None 0 None 0 0 0
D/Y rs750489067 0.322 1.0 D 0.713 0.653 0.806559599631 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
D/Y rs750489067 0.322 1.0 D 0.713 0.653 0.806559599631 gnomAD-4.0.0 1.23917E-06 None None None None N None 1.3349E-05 0 None 0 2.22876E-05 None 0 0 0 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
D/A 0.5039 ambiguous 0.6364 pathogenic None Stabilizing 0.992 D 0.566 neutral D 0.567752701 None None N
D/C 0.9266 likely_pathogenic 0.9577 pathogenic 0.029 Stabilizing 1.0 D 0.723 prob.delet. None None None None N
D/E 0.3581 ambiguous 0.4215 ambiguous -0.188 Destabilizing 0.619 D 0.255 neutral N 0.494954482 None None N
D/F 0.8946 likely_pathogenic 0.9406 pathogenic -0.143 Destabilizing 1.0 D 0.713 prob.delet. None None None None N
D/G 0.5276 ambiguous 0.6584 pathogenic -0.124 Destabilizing 0.996 D 0.602 neutral N 0.506307175 None None N
D/H 0.6265 likely_pathogenic 0.7417 pathogenic 0.303 Stabilizing 1.0 D 0.677 prob.neutral D 0.734985566 None None N
D/I 0.7866 likely_pathogenic 0.8737 pathogenic 0.259 Stabilizing 1.0 D 0.726 prob.delet. None None None None N
D/K 0.751 likely_pathogenic 0.836 pathogenic 0.415 Stabilizing 0.998 D 0.629 neutral None None None None N
D/L 0.7836 likely_pathogenic 0.8686 pathogenic 0.259 Stabilizing 0.999 D 0.705 prob.neutral None None None None N
D/M 0.9163 likely_pathogenic 0.9508 pathogenic 0.162 Stabilizing 1.0 D 0.712 prob.delet. None None None None N
D/N 0.2205 likely_benign 0.3166 benign 0.327 Stabilizing 0.999 D 0.639 neutral N 0.510218719 None None N
D/P 0.9817 likely_pathogenic 0.9877 pathogenic 0.193 Stabilizing 1.0 D 0.666 neutral None None None None N
D/Q 0.6766 likely_pathogenic 0.7735 pathogenic 0.316 Stabilizing 0.998 D 0.693 prob.neutral None None None None N
D/R 0.6956 likely_pathogenic 0.8007 pathogenic 0.596 Stabilizing 0.998 D 0.671 neutral None None None None N
D/S 0.282 likely_benign 0.3931 ambiguous 0.19 Stabilizing 0.994 D 0.577 neutral None None None None N
D/T 0.5976 likely_pathogenic 0.714 pathogenic 0.282 Stabilizing 0.999 D 0.644 neutral None None None None N
D/V 0.5913 likely_pathogenic 0.7161 pathogenic 0.193 Stabilizing 0.999 D 0.708 prob.delet. D 0.60410501 None None N
D/W 0.9745 likely_pathogenic 0.9844 pathogenic -0.114 Destabilizing 1.0 D 0.731 prob.delet. None None None None N
D/Y 0.5866 likely_pathogenic 0.718 pathogenic 0.079 Stabilizing 1.0 D 0.713 prob.delet. D 0.697766676 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.