Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC826625021;25022;25023 chr2:178718210;178718209;178718208chr2:179582937;179582936;179582935
N2AB794924070;24071;24072 chr2:178718210;178718209;178718208chr2:179582937;179582936;179582935
N2A702221289;21290;21291 chr2:178718210;178718209;178718208chr2:179582937;179582936;179582935
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: F
  • RefSeq wild type transcript codon: TTT
  • RefSeq wild type template codon: AAA
  • Domain: Ig-68
  • Domain position: 3
  • Structural Position: 3
  • Q(SASA): 0.1707
  • 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
F/Y rs768252647 -1.033 0.999 D 0.657 0.623 0.851514812675 gnomAD-2.1.1 8.33E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.8E-05 0
F/Y rs768252647 -1.033 0.999 D 0.657 0.623 0.851514812675 gnomAD-4.0.0 1.78772E-05 None None None None N None 0 0 None 0 0 None 2.2172E-05 0 2.5959E-05 0 3.05045E-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
F/A 0.9875 likely_pathogenic 0.9912 pathogenic -2.546 Highly Destabilizing 0.999 D 0.803 deleterious None None None None N
F/C 0.9622 likely_pathogenic 0.9748 pathogenic -1.142 Destabilizing 1.0 D 0.848 deleterious D 0.568884948 None None N
F/D 0.9972 likely_pathogenic 0.9982 pathogenic -1.745 Destabilizing 1.0 D 0.862 deleterious None None None None N
F/E 0.9974 likely_pathogenic 0.998 pathogenic -1.643 Destabilizing 1.0 D 0.861 deleterious None None None None N
F/G 0.9952 likely_pathogenic 0.9966 pathogenic -2.893 Highly Destabilizing 1.0 D 0.853 deleterious None None None None N
F/H 0.9854 likely_pathogenic 0.9903 pathogenic -1.12 Destabilizing 1.0 D 0.743 deleterious None None None None N
F/I 0.6139 likely_pathogenic 0.6285 pathogenic -1.469 Destabilizing 0.902 D 0.462 neutral D 0.535985206 None None N
F/K 0.9973 likely_pathogenic 0.9981 pathogenic -1.357 Destabilizing 1.0 D 0.861 deleterious None None None None N
F/L 0.9656 likely_pathogenic 0.9615 pathogenic -1.469 Destabilizing 0.984 D 0.629 neutral N 0.513403187 None None N
F/M 0.9115 likely_pathogenic 0.9147 pathogenic -1.034 Destabilizing 0.996 D 0.693 prob.neutral None None None None N
F/N 0.9923 likely_pathogenic 0.9946 pathogenic -1.42 Destabilizing 1.0 D 0.866 deleterious None None None None N
F/P 0.9982 likely_pathogenic 0.9986 pathogenic -1.827 Destabilizing 1.0 D 0.871 deleterious None None None None N
F/Q 0.9953 likely_pathogenic 0.9967 pathogenic -1.555 Destabilizing 1.0 D 0.869 deleterious None None None None N
F/R 0.9921 likely_pathogenic 0.9946 pathogenic -0.629 Destabilizing 1.0 D 0.875 deleterious None None None None N
F/S 0.9881 likely_pathogenic 0.9917 pathogenic -2.175 Highly Destabilizing 1.0 D 0.85 deleterious D 0.55685708 None None N
F/T 0.9873 likely_pathogenic 0.991 pathogenic -1.988 Destabilizing 1.0 D 0.829 deleterious None None None None N
F/V 0.7297 likely_pathogenic 0.7536 pathogenic -1.827 Destabilizing 0.991 D 0.694 prob.neutral N 0.513465639 None None N
F/W 0.928 likely_pathogenic 0.9391 pathogenic -0.48 Destabilizing 1.0 D 0.692 prob.neutral None None None None N
F/Y 0.6969 likely_pathogenic 0.7482 pathogenic -0.727 Destabilizing 0.999 D 0.657 neutral D 0.568631459 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.