Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2414072643;72644;72645 chr2:178573714;178573713;178573712chr2:179438441;179438440;179438439
N2AB2249967720;67721;67722 chr2:178573714;178573713;178573712chr2:179438441;179438440;179438439
N2A2157264939;64940;64941 chr2:178573714;178573713;178573712chr2:179438441;179438440;179438439
N2B1507545448;45449;45450 chr2:178573714;178573713;178573712chr2:179438441;179438440;179438439
Novex-11520045823;45824;45825 chr2:178573714;178573713;178573712chr2:179438441;179438440;179438439
Novex-21526746024;46025;46026 chr2:178573714;178573713;178573712chr2:179438441;179438440;179438439
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: C
  • RefSeq wild type transcript codon: TGT
  • RefSeq wild type template codon: ACA
  • Domain: Fn3-63
  • Domain position: 19
  • Structural Position: 20
  • Q(SASA): 0.0967
  • 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
C/F None None 0.999 N 0.783 0.365 0.766026410875 gnomAD-4.0.0 1.78194E-06 None None None None N None 0 0 None 0 0 None 0 0 3.14485E-06 0 0
C/R rs768746312 -1.261 0.997 N 0.822 0.53 0.824865932375 gnomAD-2.1.1 5.05E-06 None None None None N None 0 3.82E-05 None 0 0 None 0 None 0 0 0
C/R rs768746312 -1.261 0.997 N 0.822 0.53 0.824865932375 gnomAD-4.0.0 1.77973E-06 None None None None N None 0 2.94516E-05 None 0 0 None 0 0 0 0 0
C/S None None 0.961 N 0.735 0.451 0.695778252972 gnomAD-4.0.0 1.78194E-06 None None None None N None 0 0 None 0 2.81738E-05 None 0 0 0 0 0
C/Y rs879192818 None 0.999 N 0.799 0.366 None gnomAD-4.0.0 5.34582E-06 None None None None N None 0 0 None 0 0 None 0 0 9.43456E-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
C/A 0.4843 ambiguous 0.5652 pathogenic -1.525 Destabilizing 0.469 N 0.334 neutral None None None None N
C/D 0.9983 likely_pathogenic 0.9982 pathogenic -1.3 Destabilizing 0.998 D 0.826 deleterious None None None None N
C/E 0.9989 likely_pathogenic 0.9988 pathogenic -1.068 Destabilizing 0.998 D 0.827 deleterious None None None None N
C/F 0.8044 likely_pathogenic 0.8096 pathogenic -0.998 Destabilizing 0.999 D 0.783 deleterious N 0.475578158 None None N
C/G 0.5419 ambiguous 0.611 pathogenic -1.891 Destabilizing 0.98 D 0.741 deleterious N 0.504736003 None None N
C/H 0.9956 likely_pathogenic 0.9952 pathogenic -2.212 Highly Destabilizing 1.0 D 0.817 deleterious None None None None N
C/I 0.6734 likely_pathogenic 0.6984 pathogenic -0.546 Destabilizing 0.998 D 0.799 deleterious None None None None N
C/K 0.9994 likely_pathogenic 0.9992 pathogenic -0.942 Destabilizing 0.998 D 0.822 deleterious None None None None N
C/L 0.6888 likely_pathogenic 0.7027 pathogenic -0.546 Destabilizing 0.985 D 0.709 prob.delet. None None None None N
C/M 0.7751 likely_pathogenic 0.7517 pathogenic None Stabilizing 1.0 D 0.767 deleterious None None None None N
C/N 0.9895 likely_pathogenic 0.99 pathogenic -1.527 Destabilizing 0.999 D 0.829 deleterious None None None None N
C/P 0.999 likely_pathogenic 0.9991 pathogenic -0.848 Destabilizing 0.998 D 0.83 deleterious None None None None N
C/Q 0.9959 likely_pathogenic 0.9955 pathogenic -1.075 Destabilizing 0.999 D 0.844 deleterious None None None None N
C/R 0.9938 likely_pathogenic 0.9936 pathogenic -1.384 Destabilizing 0.997 D 0.822 deleterious N 0.516092309 None None N
C/S 0.7306 likely_pathogenic 0.7913 pathogenic -1.833 Destabilizing 0.961 D 0.735 prob.delet. N 0.486378259 None None N
C/T 0.7786 likely_pathogenic 0.8279 pathogenic -1.4 Destabilizing 0.985 D 0.753 deleterious None None None None N
C/V 0.4747 ambiguous 0.5094 ambiguous -0.848 Destabilizing 0.985 D 0.735 prob.delet. None None None None N
C/W 0.9892 likely_pathogenic 0.9879 pathogenic -1.372 Destabilizing 1.0 D 0.789 deleterious N 0.516092309 None None N
C/Y 0.955 likely_pathogenic 0.9521 pathogenic -1.136 Destabilizing 0.999 D 0.799 deleterious N 0.489340773 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.