Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1513945640;45641;45642 chr2:178621303;178621302;178621301chr2:179486030;179486029;179486028
N2AB1349840717;40718;40719 chr2:178621303;178621302;178621301chr2:179486030;179486029;179486028
N2A1257137936;37937;37938 chr2:178621303;178621302;178621301chr2:179486030;179486029;179486028
N2B607418445;18446;18447 chr2:178621303;178621302;178621301chr2:179486030;179486029;179486028
Novex-1619918820;18821;18822 chr2:178621303;178621302;178621301chr2:179486030;179486029;179486028
Novex-2626619021;19022;19023 chr2:178621303;178621302;178621301chr2:179486030;179486029;179486028
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-103
  • Domain position: 20
  • Structural Position: 30
  • Q(SASA): 0.0988
  • 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/L None None 0.999 N 0.673 0.591 0.426318900417 gnomAD-4.0.0 1.59505E-06 None None None None N None 0 0 None 0 2.79392E-05 None 0 0 0 0 0
F/S rs1403204950 None 1.0 D 0.892 0.771 None gnomAD-4.0.0 1.59503E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43476E-05 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
F/A 0.9963 likely_pathogenic 0.9969 pathogenic -2.539 Highly Destabilizing 1.0 D 0.83 deleterious None None None None N
F/C 0.9928 likely_pathogenic 0.9948 pathogenic -1.401 Destabilizing 1.0 D 0.869 deleterious D 0.794732641 None None N
F/D 0.9996 likely_pathogenic 0.9996 pathogenic -3.488 Highly Destabilizing 1.0 D 0.892 deleterious None None None None N
F/E 0.9995 likely_pathogenic 0.9995 pathogenic -3.238 Highly Destabilizing 1.0 D 0.893 deleterious None None None None N
F/G 0.9983 likely_pathogenic 0.9984 pathogenic -3.003 Highly Destabilizing 1.0 D 0.895 deleterious None None None None N
F/H 0.998 likely_pathogenic 0.9979 pathogenic -2.111 Highly Destabilizing 1.0 D 0.838 deleterious None None None None N
F/I 0.8736 likely_pathogenic 0.8842 pathogenic -1.0 Destabilizing 1.0 D 0.795 deleterious D 0.602012445 None None N
F/K 0.9996 likely_pathogenic 0.9995 pathogenic -2.155 Highly Destabilizing 1.0 D 0.893 deleterious None None None None N
F/L 0.972 likely_pathogenic 0.9819 pathogenic -1.0 Destabilizing 0.999 D 0.673 neutral N 0.49557215 None None N
F/M 0.9312 likely_pathogenic 0.9428 pathogenic -0.733 Destabilizing 1.0 D 0.787 deleterious None None None None N
F/N 0.9988 likely_pathogenic 0.9987 pathogenic -2.881 Highly Destabilizing 1.0 D 0.896 deleterious None None None None N
F/P 1.0 likely_pathogenic 1.0 pathogenic -1.529 Destabilizing 1.0 D 0.901 deleterious None None None None N
F/Q 0.9994 likely_pathogenic 0.9994 pathogenic -2.643 Highly Destabilizing 1.0 D 0.898 deleterious None None None None N
F/R 0.999 likely_pathogenic 0.9988 pathogenic -2.091 Highly Destabilizing 1.0 D 0.897 deleterious None None None None N
F/S 0.9988 likely_pathogenic 0.9989 pathogenic -3.287 Highly Destabilizing 1.0 D 0.892 deleterious D 0.794732641 None None N
F/T 0.9984 likely_pathogenic 0.9985 pathogenic -2.908 Highly Destabilizing 1.0 D 0.889 deleterious None None None None N
F/V 0.9403 likely_pathogenic 0.9436 pathogenic -1.529 Destabilizing 1.0 D 0.793 deleterious D 0.683263391 None None N
F/W 0.9667 likely_pathogenic 0.9652 pathogenic -0.36 Destabilizing 1.0 D 0.763 deleterious None None None None N
F/Y 0.7745 likely_pathogenic 0.7695 pathogenic -0.786 Destabilizing 0.999 D 0.629 neutral D 0.794683224 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.