Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC566617221;17222;17223 chr2:178731879;178731878;178731877chr2:179596606;179596605;179596604
N2AB534916270;16271;16272 chr2:178731879;178731878;178731877chr2:179596606;179596605;179596604
N2A442213489;13490;13491 chr2:178731879;178731878;178731877chr2:179596606;179596605;179596604
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-40
  • Domain position: 30
  • Structural Position: 44
  • Q(SASA): 0.2035
  • 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
F/L None None 0.008 N 0.21 0.339 0.190952846119 gnomAD-4.0.0 3.18275E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85851E-06 1.43279E-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 0.8327 likely_pathogenic 0.9104 pathogenic -2.955 Highly Destabilizing 0.775 D 0.563 neutral None None None None I
F/C 0.6271 likely_pathogenic 0.7973 pathogenic -1.78 Destabilizing 0.995 D 0.64 neutral N 0.504392923 None None I
F/D 0.9772 likely_pathogenic 0.9894 pathogenic -2.383 Highly Destabilizing 0.987 D 0.701 prob.neutral None None None None I
F/E 0.9762 likely_pathogenic 0.9885 pathogenic -2.244 Highly Destabilizing 0.961 D 0.701 prob.neutral None None None None I
F/G 0.9493 likely_pathogenic 0.9751 pathogenic -3.356 Highly Destabilizing 0.961 D 0.665 neutral None None None None I
F/H 0.8755 likely_pathogenic 0.9261 pathogenic -1.603 Destabilizing 0.923 D 0.574 neutral None None None None I
F/I 0.5046 ambiguous 0.6623 pathogenic -1.681 Destabilizing 0.565 D 0.499 neutral N 0.499925618 None None I
F/K 0.9756 likely_pathogenic 0.9887 pathogenic -2.072 Highly Destabilizing 0.961 D 0.698 prob.neutral None None None None I
F/L 0.8893 likely_pathogenic 0.9389 pathogenic -1.681 Destabilizing 0.008 N 0.21 neutral N 0.482222505 None None I
F/M 0.691 likely_pathogenic 0.8071 pathogenic -1.258 Destabilizing 0.923 D 0.477 neutral None None None None I
F/N 0.928 likely_pathogenic 0.9627 pathogenic -2.233 Highly Destabilizing 0.961 D 0.708 prob.delet. None None None None I
F/P 0.9769 likely_pathogenic 0.9883 pathogenic -2.11 Highly Destabilizing 0.987 D 0.706 prob.neutral None None None None I
F/Q 0.9519 likely_pathogenic 0.9748 pathogenic -2.298 Highly Destabilizing 0.961 D 0.707 prob.neutral None None None None I
F/R 0.9428 likely_pathogenic 0.9705 pathogenic -1.343 Destabilizing 0.961 D 0.707 prob.neutral None None None None I
F/S 0.7857 likely_pathogenic 0.8938 pathogenic -3.008 Highly Destabilizing 0.901 D 0.602 neutral N 0.512470841 None None I
F/T 0.8556 likely_pathogenic 0.93 pathogenic -2.767 Highly Destabilizing 0.961 D 0.601 neutral None None None None I
F/V 0.463 ambiguous 0.625 pathogenic -2.11 Highly Destabilizing 0.565 D 0.494 neutral N 0.482147934 None None I
F/W 0.6634 likely_pathogenic 0.7407 pathogenic -0.694 Destabilizing 0.989 D 0.477 neutral None None None None I
F/Y 0.3056 likely_benign 0.3573 ambiguous -1.05 Destabilizing 0.008 N 0.279 neutral N 0.492783128 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.