Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC608618481;18482;18483 chr2:178730144;178730143;178730142chr2:179594871;179594870;179594869
N2AB576917530;17531;17532 chr2:178730144;178730143;178730142chr2:179594871;179594870;179594869
N2A484214749;14750;14751 chr2:178730144;178730143;178730142chr2:179594871;179594870;179594869
N2BNoneNone chr2:Nonechr2:None
Novex-1NoneNone chr2:Nonechr2:None
Novex-2NoneNone chr2:Nonechr2:None
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: L
  • RefSeq wild type transcript codon: CTA
  • RefSeq wild type template codon: GAT
  • Domain: Ig-44
  • Domain position: 75
  • Structural Position: 158
  • Q(SASA): 0.0915
  • 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
L/I rs1160746683 -1.161 0.002 N 0.284 0.126 0.226586394389 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.67E-05 0
L/I rs1160746683 -1.161 0.002 N 0.284 0.126 0.226586394389 gnomAD-4.0.0 3.18523E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86022E-06 1.43394E-05 0
L/V None None 0.022 N 0.292 0.189 0.18274738541 gnomAD-4.0.0 1.59262E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86022E-06 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
L/A 0.5372 ambiguous 0.5435 ambiguous -2.602 Highly Destabilizing 0.029 N 0.485 neutral None None None None N
L/C 0.7427 likely_pathogenic 0.7433 pathogenic -2.325 Highly Destabilizing 0.991 D 0.788 deleterious None None None None N
L/D 0.996 likely_pathogenic 0.9968 pathogenic -3.429 Highly Destabilizing 0.974 D 0.821 deleterious None None None None N
L/E 0.9801 likely_pathogenic 0.9838 pathogenic -3.23 Highly Destabilizing 0.974 D 0.802 deleterious None None None None N
L/F 0.4801 ambiguous 0.5254 ambiguous -1.454 Destabilizing 0.949 D 0.734 prob.delet. None None None None N
L/G 0.9217 likely_pathogenic 0.9305 pathogenic -3.092 Highly Destabilizing 0.842 D 0.779 deleterious None None None None N
L/H 0.9422 likely_pathogenic 0.9564 pathogenic -2.477 Highly Destabilizing 0.998 D 0.823 deleterious None None None None N
L/I 0.0723 likely_benign 0.072 benign -1.183 Destabilizing 0.002 N 0.284 neutral N 0.392278078 None None N
L/K 0.9752 likely_pathogenic 0.9808 pathogenic -1.965 Destabilizing 0.974 D 0.787 deleterious None None None None N
L/M 0.2265 likely_benign 0.23 benign -1.457 Destabilizing 0.949 D 0.694 prob.neutral None None None None N
L/N 0.9674 likely_pathogenic 0.9734 pathogenic -2.371 Highly Destabilizing 0.991 D 0.831 deleterious None None None None N
L/P 0.9881 likely_pathogenic 0.9889 pathogenic -1.639 Destabilizing 0.966 D 0.828 deleterious N 0.436743719 None None N
L/Q 0.9155 likely_pathogenic 0.9338 pathogenic -2.273 Highly Destabilizing 0.989 D 0.817 deleterious N 0.496002666 None None N
L/R 0.9444 likely_pathogenic 0.9573 pathogenic -1.647 Destabilizing 0.966 D 0.813 deleterious N 0.496002666 None None N
L/S 0.8857 likely_pathogenic 0.8999 pathogenic -2.961 Highly Destabilizing 0.728 D 0.761 deleterious None None None None N
L/T 0.7373 likely_pathogenic 0.7488 pathogenic -2.63 Highly Destabilizing 0.842 D 0.71 prob.delet. None None None None N
L/V 0.0858 likely_benign 0.0835 benign -1.639 Destabilizing 0.022 N 0.292 neutral N 0.307155107 None None N
L/W 0.8966 likely_pathogenic 0.929 pathogenic -1.849 Destabilizing 0.998 D 0.793 deleterious None None None None N
L/Y 0.8908 likely_pathogenic 0.9149 pathogenic -1.634 Destabilizing 0.991 D 0.795 deleterious 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.