Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC648319672;19673;19674 chr2:178728377;178728376;178728375chr2:179593104;179593103;179593102
N2AB616618721;18722;18723 chr2:178728377;178728376;178728375chr2:179593104;179593103;179593102
N2A523915940;15941;15942 chr2:178728377;178728376;178728375chr2:179593104;179593103;179593102
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: TTC
  • RefSeq wild type template codon: AAG
  • Domain: Ig-49
  • Domain position: 3
  • Structural Position: 3
  • Q(SASA): 0.151
  • 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 rs373750655 -2.273 0.999 D 0.677 0.696 0.440498838766 gnomAD-2.1.1 2.58E-05 None None None None N None 0 0 None 0 0 None 0 None 0 5.68E-05 0
F/L rs373750655 -2.273 0.999 D 0.677 0.696 0.440498838766 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
F/L rs373750655 -2.273 0.999 D 0.677 0.696 0.440498838766 gnomAD-4.0.0 3.81018E-05 None None None None N None 0 0 None 0 0 None 0 0 5.02366E-05 0 3.23269E-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 0.9914 likely_pathogenic 0.9844 pathogenic -2.677 Highly Destabilizing 1.0 D 0.805 deleterious None None None None N
F/C 0.9556 likely_pathogenic 0.9342 pathogenic -1.731 Destabilizing 1.0 D 0.821 deleterious D 0.569049532 None None N
F/D 0.999 likely_pathogenic 0.998 pathogenic -2.545 Highly Destabilizing 1.0 D 0.84 deleterious None None None None N
F/E 0.999 likely_pathogenic 0.9979 pathogenic -2.477 Highly Destabilizing 1.0 D 0.841 deleterious None None None None N
F/G 0.997 likely_pathogenic 0.9951 pathogenic -3.006 Highly Destabilizing 1.0 D 0.837 deleterious None None None None N
F/H 0.9889 likely_pathogenic 0.9842 pathogenic -1.329 Destabilizing 1.0 D 0.801 deleterious None None None None N
F/I 0.7216 likely_pathogenic 0.634 pathogenic -1.658 Destabilizing 1.0 D 0.789 deleterious N 0.503484778 None None N
F/K 0.9984 likely_pathogenic 0.9966 pathogenic -1.448 Destabilizing 1.0 D 0.842 deleterious None None None None N
F/L 0.9759 likely_pathogenic 0.9676 pathogenic -1.658 Destabilizing 0.999 D 0.677 prob.neutral D 0.52903868 None None N
F/M 0.9154 likely_pathogenic 0.8909 pathogenic -1.422 Destabilizing 1.0 D 0.787 deleterious None None None None N
F/N 0.9947 likely_pathogenic 0.9913 pathogenic -1.517 Destabilizing 1.0 D 0.843 deleterious None None None None N
F/P 0.9987 likely_pathogenic 0.9977 pathogenic -1.997 Destabilizing 1.0 D 0.848 deleterious None None None None N
F/Q 0.9976 likely_pathogenic 0.9952 pathogenic -1.756 Destabilizing 1.0 D 0.847 deleterious None None None None N
F/R 0.9953 likely_pathogenic 0.9908 pathogenic -0.643 Destabilizing 1.0 D 0.846 deleterious None None None None N
F/S 0.9909 likely_pathogenic 0.9832 pathogenic -2.226 Highly Destabilizing 1.0 D 0.835 deleterious D 0.568542553 None None N
F/T 0.9928 likely_pathogenic 0.9867 pathogenic -2.061 Highly Destabilizing 1.0 D 0.832 deleterious None None None None N
F/V 0.7774 likely_pathogenic 0.6937 pathogenic -1.997 Destabilizing 1.0 D 0.779 deleterious D 0.532557399 None None N
F/W 0.9334 likely_pathogenic 0.9176 pathogenic -0.84 Destabilizing 1.0 D 0.789 deleterious None None None None N
F/Y 0.7041 likely_pathogenic 0.6773 pathogenic -1.015 Destabilizing 0.999 D 0.648 neutral D 0.550691788 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.