Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1850755744;55745;55746 chr2:178601478;178601477;178601476chr2:179466205;179466204;179466203
N2AB1686650821;50822;50823 chr2:178601478;178601477;178601476chr2:179466205;179466204;179466203
N2A1593948040;48041;48042 chr2:178601478;178601477;178601476chr2:179466205;179466204;179466203
N2B944228549;28550;28551 chr2:178601478;178601477;178601476chr2:179466205;179466204;179466203
Novex-1956728924;28925;28926 chr2:178601478;178601477;178601476chr2:179466205;179466204;179466203
Novex-2963429125;29126;29127 chr2:178601478;178601477;178601476chr2:179466205;179466204;179466203
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: G
  • RefSeq wild type transcript codon: GGA
  • RefSeq wild type template codon: CCT
  • Domain: Fn3-22
  • Domain position: 29
  • Structural Position: 31
  • Q(SASA): 0.3377
  • 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
G/E rs794727388 None 1.0 N 0.851 0.642 0.49376247819 gnomAD-3.1.2 3.29E-05 None None None None I None 1.2068E-04 0 0 0 0 None 0 0 0 0 0
G/E rs794727388 None 1.0 N 0.851 0.642 0.49376247819 gnomAD-4.0.0 4.34005E-06 None None None None I None 8.01603E-05 0 None 0 0 None 0 0 8.47941E-07 0 0
G/R rs749948987 -0.452 1.0 N 0.829 0.632 0.430351802785 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.91E-06 0
G/R rs749948987 -0.452 1.0 N 0.829 0.632 0.430351802785 gnomAD-4.0.0 1.59295E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86154E-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
G/A 0.9587 likely_pathogenic 0.9597 pathogenic -0.444 Destabilizing 1.0 D 0.724 prob.delet. N 0.502995392 None None I
G/C 0.9916 likely_pathogenic 0.9907 pathogenic -0.824 Destabilizing 1.0 D 0.788 deleterious None None None None I
G/D 0.9985 likely_pathogenic 0.9977 pathogenic -0.636 Destabilizing 1.0 D 0.84 deleterious None None None None I
G/E 0.999 likely_pathogenic 0.9986 pathogenic -0.786 Destabilizing 1.0 D 0.851 deleterious N 0.507007863 None None I
G/F 0.9992 likely_pathogenic 0.999 pathogenic -1.165 Destabilizing 1.0 D 0.786 deleterious None None None None I
G/H 0.9992 likely_pathogenic 0.9988 pathogenic -0.798 Destabilizing 1.0 D 0.809 deleterious None None None None I
G/I 0.9992 likely_pathogenic 0.9991 pathogenic -0.465 Destabilizing 1.0 D 0.793 deleterious None None None None I
G/K 0.9989 likely_pathogenic 0.9986 pathogenic -0.834 Destabilizing 1.0 D 0.852 deleterious None None None None I
G/L 0.9987 likely_pathogenic 0.9983 pathogenic -0.465 Destabilizing 1.0 D 0.805 deleterious None None None None I
G/M 0.9994 likely_pathogenic 0.9992 pathogenic -0.354 Destabilizing 1.0 D 0.791 deleterious None None None None I
G/N 0.9985 likely_pathogenic 0.9976 pathogenic -0.432 Destabilizing 1.0 D 0.806 deleterious None None None None I
G/P 0.9998 likely_pathogenic 0.9997 pathogenic -0.422 Destabilizing 1.0 D 0.827 deleterious None None None None I
G/Q 0.9988 likely_pathogenic 0.9984 pathogenic -0.725 Destabilizing 1.0 D 0.827 deleterious None None None None I
G/R 0.9955 likely_pathogenic 0.9945 pathogenic -0.407 Destabilizing 1.0 D 0.829 deleterious N 0.490398092 None None I
G/S 0.9723 likely_pathogenic 0.965 pathogenic -0.622 Destabilizing 1.0 D 0.804 deleterious None None None None I
G/T 0.9972 likely_pathogenic 0.9967 pathogenic -0.697 Destabilizing 1.0 D 0.849 deleterious None None None None I
G/V 0.998 likely_pathogenic 0.9979 pathogenic -0.422 Destabilizing 1.0 D 0.813 deleterious N 0.51527675 None None I
G/W 0.9985 likely_pathogenic 0.9979 pathogenic -1.336 Destabilizing 1.0 D 0.808 deleterious None None None None I
G/Y 0.999 likely_pathogenic 0.9987 pathogenic -0.97 Destabilizing 1.0 D 0.782 deleterious None None 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.