Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC883226719;26720;26721 chr2:178714164;178714163;178714162chr2:179578891;179578890;179578889
N2AB851525768;25769;25770 chr2:178714164;178714163;178714162chr2:179578891;179578890;179578889
N2A758822987;22988;22989 chr2:178714164;178714163;178714162chr2:179578891;179578890;179578889
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: I
  • RefSeq wild type transcript codon: ATT
  • RefSeq wild type template codon: TAA
  • Domain: Ig-74
  • Domain position: 3
  • Structural Position: 3
  • Q(SASA): 0.0964
  • 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
I/S None None 0.998 D 0.823 0.736 0.908569977246 gnomAD-4.0.0 1.37166E-06 None None None None N None 0 0 None 0 0 None 0 0 1.80133E-06 0 0
I/T rs748198284 -2.496 0.998 D 0.808 0.704 0.808517472782 gnomAD-2.1.1 3.25E-05 None None None None N None 0 0 None 0 4.47678E-04 None 0 None 0 0 0
I/T rs748198284 -2.496 0.998 D 0.808 0.704 0.808517472782 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
I/T rs748198284 -2.496 0.998 D 0.808 0.704 0.808517472782 gnomAD-4.0.0 1.49047E-05 None None None None N None 1.34023E-05 0 None 0 1.7842E-04 None 0 0 1.27301E-05 0 0
I/V rs72648989 -1.448 0.91 N 0.546 0.144 None gnomAD-2.1.1 7.57335E-04 None None None None N None 2.90964E-04 1.72315E-04 None 0 0 None 9.83251E-04 None 4.00994E-04 1.19407E-03 8.51789E-04
I/V rs72648989 -1.448 0.91 N 0.546 0.144 None gnomAD-3.1.2 8.01809E-04 None None None None N None 3.61969E-04 1.96489E-04 0 0 0 None 2.82752E-04 0 1.44058E-03 6.21375E-04 0
I/V rs72648989 -1.448 0.91 N 0.546 0.144 None 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 1E-03 None None None 0 None
I/V rs72648989 -1.448 0.91 N 0.546 0.144 None gnomAD-4.0.0 1.39471E-03 None None None None N None 3.34439E-04 1.84657E-04 None 0 0 None 5.31416E-04 9.94365E-04 1.71177E-03 1.07565E-03 8.98934E-04

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
I/A 0.5066 ambiguous 0.6928 pathogenic -2.346 Highly Destabilizing 0.985 D 0.739 prob.delet. None None None None N
I/C 0.9301 likely_pathogenic 0.9644 pathogenic -1.712 Destabilizing 1.0 D 0.768 deleterious None None None None N
I/D 0.982 likely_pathogenic 0.9929 pathogenic -2.693 Highly Destabilizing 0.999 D 0.878 deleterious None None None None N
I/E 0.956 likely_pathogenic 0.9796 pathogenic -2.591 Highly Destabilizing 0.999 D 0.879 deleterious None None None None N
I/F 0.3427 ambiguous 0.4437 ambiguous -1.525 Destabilizing 0.071 N 0.338 neutral N 0.493978294 None None N
I/G 0.9393 likely_pathogenic 0.9738 pathogenic -2.771 Highly Destabilizing 0.999 D 0.864 deleterious None None None None N
I/H 0.9467 likely_pathogenic 0.9742 pathogenic -2.094 Highly Destabilizing 1.0 D 0.879 deleterious None None None None N
I/K 0.8937 likely_pathogenic 0.9392 pathogenic -1.747 Destabilizing 0.999 D 0.877 deleterious None None None None N
I/L 0.2411 likely_benign 0.3203 benign -1.172 Destabilizing 0.689 D 0.5 neutral N 0.497661881 None None N
I/M 0.1902 likely_benign 0.245 benign -1.079 Destabilizing 0.998 D 0.697 prob.neutral D 0.547761591 None None N
I/N 0.8594 likely_pathogenic 0.9266 pathogenic -1.821 Destabilizing 0.998 D 0.867 deleterious D 0.549029039 None None N
I/P 0.9206 likely_pathogenic 0.9644 pathogenic -1.54 Destabilizing 0.999 D 0.873 deleterious None None None None N
I/Q 0.9291 likely_pathogenic 0.9615 pathogenic -1.905 Destabilizing 0.999 D 0.881 deleterious None None None None N
I/R 0.8355 likely_pathogenic 0.9082 pathogenic -1.231 Destabilizing 0.999 D 0.869 deleterious None None None None N
I/S 0.7404 likely_pathogenic 0.8629 pathogenic -2.427 Highly Destabilizing 0.998 D 0.823 deleterious D 0.537419244 None None N
I/T 0.4237 ambiguous 0.6426 pathogenic -2.207 Highly Destabilizing 0.998 D 0.808 deleterious D 0.537165755 None None N
I/V 0.0743 likely_benign 0.0918 benign -1.54 Destabilizing 0.91 D 0.546 neutral N 0.488507621 None None N
I/W 0.9471 likely_pathogenic 0.9731 pathogenic -1.794 Destabilizing 1.0 D 0.871 deleterious None None None None N
I/Y 0.8679 likely_pathogenic 0.9242 pathogenic -1.554 Destabilizing 0.983 D 0.808 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.