Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC24067441;7442;7443 chr2:178773952;178773951;178773950chr2:179638679;179638678;179638677
N2AB24067441;7442;7443 chr2:178773952;178773951;178773950chr2:179638679;179638678;179638677
N2A24067441;7442;7443 chr2:178773952;178773951;178773950chr2:179638679;179638678;179638677
N2B23607303;7304;7305 chr2:178773952;178773951;178773950chr2:179638679;179638678;179638677
Novex-123607303;7304;7305 chr2:178773952;178773951;178773950chr2:179638679;179638678;179638677
Novex-223607303;7304;7305 chr2:178773952;178773951;178773950chr2:179638679;179638678;179638677
Novex-324067441;7442;7443 chr2:178773952;178773951;178773950chr2:179638679;179638678;179638677

Information

  • RefSeq wild type amino acid: D
  • RefSeq wild type transcript codon: GAC
  • RefSeq wild type template codon: CTG
  • Domain: Ig-13
  • Domain position: 51
  • Structural Position: 130
  • Q(SASA): 0.6952
  • 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 rs772454567 0.192 1.0 D 0.447 0.535 0.543209242439 gnomAD-2.1.1 3.99E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
D/E rs772454567 0.192 1.0 D 0.447 0.535 0.543209242439 gnomAD-4.0.0 1.59052E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43271E-05 0
D/G rs2091891924 None 1.0 D 0.649 0.717 0.562617508568 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/G rs2091891924 None 1.0 D 0.649 0.717 0.562617508568 gnomAD-4.0.0 2.56126E-06 None None None None N None 0 0 None 0 0 None 0 0 4.7837E-06 0 0
D/N None None 1.0 D 0.635 0.583 0.499218193508 gnomAD-4.0.0 1.59052E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43271E-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
D/A 0.8194 likely_pathogenic 0.8208 pathogenic -0.145 Destabilizing 1.0 D 0.689 prob.neutral D 0.681404327 None None N
D/C 0.9809 likely_pathogenic 0.9803 pathogenic 0.063 Stabilizing 1.0 D 0.718 prob.delet. None None None None N
D/E 0.6654 likely_pathogenic 0.6673 pathogenic -0.243 Destabilizing 1.0 D 0.447 neutral D 0.548267493 None None N
D/F 0.9611 likely_pathogenic 0.96 pathogenic -0.184 Destabilizing 1.0 D 0.718 prob.delet. None None None None N
D/G 0.7364 likely_pathogenic 0.7431 pathogenic -0.313 Destabilizing 1.0 D 0.649 neutral D 0.642988733 None None N
D/H 0.8846 likely_pathogenic 0.8795 pathogenic 0.07 Stabilizing 1.0 D 0.661 neutral D 0.717575251 None None N
D/I 0.9598 likely_pathogenic 0.9599 pathogenic 0.24 Stabilizing 1.0 D 0.733 prob.delet. None None None None N
D/K 0.9562 likely_pathogenic 0.9563 pathogenic 0.369 Stabilizing 1.0 D 0.695 prob.neutral None None None None N
D/L 0.9213 likely_pathogenic 0.9209 pathogenic 0.24 Stabilizing 1.0 D 0.751 deleterious None None None None N
D/M 0.9799 likely_pathogenic 0.9801 pathogenic 0.278 Stabilizing 1.0 D 0.718 prob.delet. None None None None N
D/N 0.4926 ambiguous 0.481 ambiguous 0.164 Stabilizing 1.0 D 0.635 neutral D 0.56734327 None None N
D/P 0.9912 likely_pathogenic 0.9919 pathogenic 0.133 Stabilizing 1.0 D 0.691 prob.neutral None None None None N
D/Q 0.9089 likely_pathogenic 0.9032 pathogenic 0.18 Stabilizing 1.0 D 0.679 prob.neutral None None None None N
D/R 0.9396 likely_pathogenic 0.938 pathogenic 0.528 Stabilizing 1.0 D 0.723 prob.delet. None None None None N
D/S 0.588 likely_pathogenic 0.5805 pathogenic 0.051 Stabilizing 1.0 D 0.638 neutral None None None None N
D/T 0.8911 likely_pathogenic 0.8911 pathogenic 0.178 Stabilizing 1.0 D 0.697 prob.neutral None None None None N
D/V 0.899 likely_pathogenic 0.8995 pathogenic 0.133 Stabilizing 1.0 D 0.752 deleterious D 0.658474577 None None N
D/W 0.9921 likely_pathogenic 0.9912 pathogenic -0.104 Destabilizing 1.0 D 0.713 prob.delet. None None None None N
D/Y 0.8443 likely_pathogenic 0.8337 pathogenic 0.043 Stabilizing 1.0 D 0.707 prob.neutral D 0.717575251 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.