Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1744152546;52547;52548 chr2:178608690;178608689;178608688chr2:179473417;179473416;179473415
N2AB1580047623;47624;47625 chr2:178608690;178608689;178608688chr2:179473417;179473416;179473415
N2A1487344842;44843;44844 chr2:178608690;178608689;178608688chr2:179473417;179473416;179473415
N2B837625351;25352;25353 chr2:178608690;178608689;178608688chr2:179473417;179473416;179473415
Novex-1850125726;25727;25728 chr2:178608690;178608689;178608688chr2:179473417;179473416;179473415
Novex-2856825927;25928;25929 chr2:178608690;178608689;178608688chr2:179473417;179473416;179473415
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: Y
  • RefSeq wild type transcript codon: TAC
  • RefSeq wild type template codon: ATG
  • Domain: Fn3-14
  • Domain position: 73
  • Structural Position: 104
  • Q(SASA): 0.0998
  • 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
Y/H None None 1.0 D 0.825 0.878 0.750939832703 gnomAD-4.0.0 1.59462E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86328E-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
Y/A 0.9977 likely_pathogenic 0.9979 pathogenic -3.487 Highly Destabilizing 1.0 D 0.829 deleterious None None None None N
Y/C 0.9875 likely_pathogenic 0.988 pathogenic -2.113 Highly Destabilizing 1.0 D 0.817 deleterious D 0.658541686 None None N
Y/D 0.9937 likely_pathogenic 0.9945 pathogenic -3.842 Highly Destabilizing 1.0 D 0.827 deleterious D 0.674561047 None None N
Y/E 0.9987 likely_pathogenic 0.9988 pathogenic -3.638 Highly Destabilizing 1.0 D 0.849 deleterious None None None None N
Y/F 0.5563 ambiguous 0.5615 ambiguous -1.343 Destabilizing 0.999 D 0.769 deleterious D 0.627704866 None None N
Y/G 0.9912 likely_pathogenic 0.9922 pathogenic -3.899 Highly Destabilizing 1.0 D 0.844 deleterious None None None None N
Y/H 0.9893 likely_pathogenic 0.9908 pathogenic -2.438 Highly Destabilizing 1.0 D 0.825 deleterious D 0.674561047 None None N
Y/I 0.9734 likely_pathogenic 0.9708 pathogenic -2.101 Highly Destabilizing 1.0 D 0.84 deleterious None None None None N
Y/K 0.999 likely_pathogenic 0.999 pathogenic -2.561 Highly Destabilizing 1.0 D 0.845 deleterious None None None None N
Y/L 0.9564 likely_pathogenic 0.9562 pathogenic -2.101 Highly Destabilizing 0.999 D 0.8 deleterious None None None None N
Y/M 0.9869 likely_pathogenic 0.9865 pathogenic -1.808 Destabilizing 1.0 D 0.808 deleterious None None None None N
Y/N 0.9714 likely_pathogenic 0.9743 pathogenic -3.352 Highly Destabilizing 1.0 D 0.828 deleterious D 0.674359243 None None N
Y/P 0.9993 likely_pathogenic 0.9993 pathogenic -2.581 Highly Destabilizing 1.0 D 0.857 deleterious None None None None N
Y/Q 0.9989 likely_pathogenic 0.9991 pathogenic -3.113 Highly Destabilizing 1.0 D 0.819 deleterious None None None None N
Y/R 0.998 likely_pathogenic 0.9981 pathogenic -2.227 Highly Destabilizing 1.0 D 0.834 deleterious None None None None N
Y/S 0.992 likely_pathogenic 0.9927 pathogenic -3.689 Highly Destabilizing 1.0 D 0.849 deleterious D 0.674561047 None None N
Y/T 0.9959 likely_pathogenic 0.9961 pathogenic -3.37 Highly Destabilizing 1.0 D 0.849 deleterious None None None None N
Y/V 0.9619 likely_pathogenic 0.9607 pathogenic -2.581 Highly Destabilizing 1.0 D 0.829 deleterious None None None None N
Y/W 0.9509 likely_pathogenic 0.9517 pathogenic -0.639 Destabilizing 1.0 D 0.798 deleterious None None 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.