Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3284298749;98750;98751 chr2:178539541;178539540;178539539chr2:179404268;179404267;179404266
N2AB3120193826;93827;93828 chr2:178539541;178539540;178539539chr2:179404268;179404267;179404266
N2A3027491045;91046;91047 chr2:178539541;178539540;178539539chr2:179404268;179404267;179404266
N2B2377771554;71555;71556 chr2:178539541;178539540;178539539chr2:179404268;179404267;179404266
Novex-12390271929;71930;71931 chr2:178539541;178539540;178539539chr2:179404268;179404267;179404266
Novex-22396972130;72131;72132 chr2:178539541;178539540;178539539chr2:179404268;179404267;179404266
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: A
  • RefSeq wild type transcript codon: GCC
  • RefSeq wild type template codon: CGG
  • Domain: Fn3-127
  • Domain position: 48
  • Structural Position: 64
  • Q(SASA): 0.4659
  • 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
A/S rs199647622 -0.475 1.0 N 0.554 0.297 0.336155897331 gnomAD-2.1.1 1.61E-05 None None None None I None 0 0 None 0 0 None 0 None 0 3.55E-05 0
A/S rs199647622 -0.475 1.0 N 0.554 0.297 0.336155897331 gnomAD-3.1.2 1.97E-05 None None None None I None 0 0 0 0 0 None 0 0 4.41E-05 0 0
A/S rs199647622 -0.475 1.0 N 0.554 0.297 0.336155897331 gnomAD-4.0.0 9.29568E-06 None None None None I None 0 0 None 0 0 None 0 0 1.27143E-05 0 0
A/T rs199647622 -0.388 1.0 N 0.587 0.314 0.386721274199 gnomAD-2.1.1 6.07E-05 None None None None I None 4.13E-05 2.54439E-04 None 0 0 None 9.8E-05 None 0 2.34E-05 1.40331E-04
A/T rs199647622 -0.388 1.0 N 0.587 0.314 0.386721274199 gnomAD-3.1.2 1.32E-05 None None None None I None 2.42E-05 6.55E-05 0 0 0 None 0 0 0 0 0
A/T rs199647622 -0.388 1.0 N 0.587 0.314 0.386721274199 gnomAD-4.0.0 2.54082E-05 None None None None I None 2.67115E-05 1.66711E-04 None 0 0 None 0 0 1.61047E-05 9.88077E-05 1.60102E-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
A/C 0.7348 likely_pathogenic 0.6288 pathogenic -0.51 Destabilizing 1.0 D 0.669 neutral None None None None I
A/D 0.8405 likely_pathogenic 0.676 pathogenic -0.662 Destabilizing 1.0 D 0.737 prob.delet. N 0.448098784 None None I
A/E 0.7703 likely_pathogenic 0.5843 pathogenic -0.706 Destabilizing 1.0 D 0.634 neutral None None None None I
A/F 0.6946 likely_pathogenic 0.548 ambiguous -0.781 Destabilizing 1.0 D 0.777 deleterious None None None None I
A/G 0.2938 likely_benign 0.2151 benign -0.781 Destabilizing 1.0 D 0.535 neutral N 0.448984218 None None I
A/H 0.829 likely_pathogenic 0.7226 pathogenic -0.724 Destabilizing 1.0 D 0.769 deleterious None None None None I
A/I 0.5506 ambiguous 0.3972 ambiguous -0.221 Destabilizing 1.0 D 0.606 neutral None None None None I
A/K 0.8747 likely_pathogenic 0.7523 pathogenic -0.78 Destabilizing 1.0 D 0.625 neutral None None None None I
A/L 0.3896 ambiguous 0.2801 benign -0.221 Destabilizing 1.0 D 0.587 neutral None None None None I
A/M 0.5295 ambiguous 0.4033 ambiguous -0.332 Destabilizing 1.0 D 0.695 prob.neutral None None None None I
A/N 0.571 likely_pathogenic 0.4498 ambiguous -0.484 Destabilizing 1.0 D 0.759 deleterious None None None None I
A/P 0.5289 ambiguous 0.4026 ambiguous -0.305 Destabilizing 1.0 D 0.635 neutral N 0.470476998 None None I
A/Q 0.6533 likely_pathogenic 0.5276 ambiguous -0.646 Destabilizing 1.0 D 0.667 neutral None None None None I
A/R 0.753 likely_pathogenic 0.6101 pathogenic -0.409 Destabilizing 1.0 D 0.647 neutral None None None None I
A/S 0.138 likely_benign 0.1131 benign -0.775 Destabilizing 1.0 D 0.554 neutral N 0.411753981 None None I
A/T 0.2063 likely_benign 0.1415 benign -0.728 Destabilizing 1.0 D 0.587 neutral N 0.440866167 None None I
A/V 0.2966 likely_benign 0.1948 benign -0.305 Destabilizing 1.0 D 0.554 neutral N 0.421088328 None None I
A/W 0.9435 likely_pathogenic 0.8921 pathogenic -1.066 Destabilizing 1.0 D 0.812 deleterious None None None None I
A/Y 0.8206 likely_pathogenic 0.7093 pathogenic -0.654 Destabilizing 1.0 D 0.777 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.