Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC23177174;7175;7176 chr2:178774315;178774314;178774313chr2:179639042;179639041;179639040
N2AB23177174;7175;7176 chr2:178774315;178774314;178774313chr2:179639042;179639041;179639040
N2A23177174;7175;7176 chr2:178774315;178774314;178774313chr2:179639042;179639041;179639040
N2B22717036;7037;7038 chr2:178774315;178774314;178774313chr2:179639042;179639041;179639040
Novex-122717036;7037;7038 chr2:178774315;178774314;178774313chr2:179639042;179639041;179639040
Novex-222717036;7037;7038 chr2:178774315;178774314;178774313chr2:179639042;179639041;179639040
Novex-323177174;7175;7176 chr2:178774315;178774314;178774313chr2:179639042;179639041;179639040

Information

  • RefSeq wild type amino acid: R
  • RefSeq wild type transcript codon: CGT
  • RefSeq wild type template codon: GCA
  • Domain: Ig-12
  • Domain position: 51
  • Structural Position: 130
  • Q(SASA): 0.5714
  • 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
R/C rs750101152 -0.295 1.0 N 0.723 0.536 0.752996958338 gnomAD-2.1.1 1.99E-05 None None None None N None 0 0 None 0 0 None 6.53E-05 None 0 2.65E-05 0
R/C rs750101152 -0.295 1.0 N 0.723 0.536 0.752996958338 gnomAD-3.1.2 1.31E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 1.47E-05 0 0
R/C rs750101152 -0.295 1.0 N 0.723 0.536 0.752996958338 gnomAD-4.0.0 2.35448E-05 None None None None N None 1.33508E-05 0 None 0 0 None 0 1.64366E-04 2.7119E-05 2.19606E-05 3.20072E-05
R/H rs764882950 -0.963 1.0 N 0.73 0.435 0.346315397577 gnomAD-2.1.1 6.02E-05 None None None None N None 1.20163E-04 2.54137E-04 None 0 5.02E-05 None 6.53E-05 None 0 1.55E-05 0
R/H rs764882950 -0.963 1.0 N 0.73 0.435 0.346315397577 gnomAD-3.1.2 7.23E-05 None None None None N None 7.24E-05 5.24384E-04 0 0 0 None 0 0 0 0 0
R/H rs764882950 -0.963 1.0 N 0.73 0.435 0.346315397577 gnomAD-4.0.0 2.72607E-05 None None None None N None 1.33305E-04 2.83371E-04 None 0 2.22777E-05 None 0 0 1.18647E-05 2.19597E-05 0
R/L rs764882950 None 1.0 N 0.626 0.549 0.65596759018 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
R/L rs764882950 None 1.0 N 0.626 0.549 0.65596759018 gnomAD-4.0.0 1.23921E-06 None None None None N None 1.33522E-05 0 None 0 0 None 0 0 8.47471E-07 0 0
R/S rs750101152 None 1.0 N 0.671 0.533 0.491455083755 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
R/S rs750101152 None 1.0 N 0.671 0.533 0.491455083755 gnomAD-4.0.0 6.57289E-06 None None None None N None 2.41371E-05 0 None 0 0 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
R/A 0.7695 likely_pathogenic 0.7986 pathogenic 0.008 Stabilizing 0.999 D 0.603 neutral None None None None N
R/C 0.422 ambiguous 0.4994 ambiguous -0.206 Destabilizing 1.0 D 0.723 prob.delet. N 0.514528051 None None N
R/D 0.8997 likely_pathogenic 0.9094 pathogenic -0.137 Destabilizing 1.0 D 0.705 prob.neutral None None None None N
R/E 0.6696 likely_pathogenic 0.7098 pathogenic -0.09 Destabilizing 0.999 D 0.629 neutral None None None None N
R/F 0.7527 likely_pathogenic 0.7851 pathogenic -0.295 Destabilizing 1.0 D 0.715 prob.delet. None None None None N
R/G 0.5958 likely_pathogenic 0.6385 pathogenic -0.152 Destabilizing 1.0 D 0.626 neutral N 0.51318875 None None N
R/H 0.1999 likely_benign 0.2195 benign -0.629 Destabilizing 1.0 D 0.73 prob.delet. N 0.477614625 None None N
R/I 0.5068 ambiguous 0.5453 ambiguous 0.385 Stabilizing 1.0 D 0.733 prob.delet. None None None None N
R/K 0.195 likely_benign 0.2148 benign -0.1 Destabilizing 0.998 D 0.527 neutral None None None None N
R/L 0.5281 ambiguous 0.5559 ambiguous 0.385 Stabilizing 1.0 D 0.626 neutral N 0.4890664 None None N
R/M 0.5937 likely_pathogenic 0.6313 pathogenic -0.007 Destabilizing 1.0 D 0.695 prob.neutral None None None None N
R/N 0.8437 likely_pathogenic 0.8491 pathogenic 0.068 Stabilizing 1.0 D 0.711 prob.delet. None None None None N
R/P 0.9286 likely_pathogenic 0.9404 pathogenic 0.278 Stabilizing 1.0 D 0.688 prob.neutral N 0.494852303 None None N
R/Q 0.1926 likely_benign 0.2057 benign -0.018 Destabilizing 1.0 D 0.702 prob.neutral None None None None N
R/S 0.8029 likely_pathogenic 0.8195 pathogenic -0.22 Destabilizing 1.0 D 0.671 neutral N 0.482749694 None None N
R/T 0.6437 likely_pathogenic 0.6759 pathogenic -0.055 Destabilizing 1.0 D 0.675 neutral None None None None N
R/V 0.6181 likely_pathogenic 0.6549 pathogenic 0.278 Stabilizing 1.0 D 0.714 prob.delet. None None None None N
R/W 0.3087 likely_benign 0.354 ambiguous -0.41 Destabilizing 1.0 D 0.734 prob.delet. None None None None N
R/Y 0.6044 likely_pathogenic 0.6422 pathogenic 0.006 Stabilizing 1.0 D 0.703 prob.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.