Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2971189356;89357;89358 chr2:178553980;178553979;178553978chr2:179418707;179418706;179418705
N2AB2807084433;84434;84435 chr2:178553980;178553979;178553978chr2:179418707;179418706;179418705
N2A2714381652;81653;81654 chr2:178553980;178553979;178553978chr2:179418707;179418706;179418705
N2B2064662161;62162;62163 chr2:178553980;178553979;178553978chr2:179418707;179418706;179418705
Novex-12077162536;62537;62538 chr2:178553980;178553979;178553978chr2:179418707;179418706;179418705
Novex-22083862737;62738;62739 chr2:178553980;178553979;178553978chr2:179418707;179418706;179418705
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTA
  • RefSeq wild type template codon: CAT
  • Domain: Fn3-104
  • Domain position: 79
  • Structural Position: 111
  • Q(SASA): 0.1369
  • 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
V/I None None None N 0.18 0.097 0.263140351381 gnomAD-4.0.0 1.59482E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.43509E-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
V/A 0.3113 likely_benign 0.3236 benign -1.929 Destabilizing 0.22 N 0.471 neutral N 0.47578392 None None I
V/C 0.7255 likely_pathogenic 0.7689 pathogenic -1.919 Destabilizing 0.968 D 0.701 prob.neutral None None None None I
V/D 0.7754 likely_pathogenic 0.7655 pathogenic -2.468 Highly Destabilizing 0.89 D 0.803 deleterious None None None None I
V/E 0.4067 ambiguous 0.3995 ambiguous -2.309 Highly Destabilizing 0.667 D 0.726 prob.delet. N 0.440085094 None None I
V/F 0.2485 likely_benign 0.2627 benign -1.255 Destabilizing 0.396 N 0.724 prob.delet. None None None None I
V/G 0.5436 ambiguous 0.5487 ambiguous -2.383 Highly Destabilizing 0.667 D 0.759 deleterious N 0.515412698 None None I
V/H 0.7465 likely_pathogenic 0.7811 pathogenic -1.981 Destabilizing 0.968 D 0.793 deleterious None None None None I
V/I 0.0662 likely_benign 0.0672 benign -0.694 Destabilizing None N 0.18 neutral N 0.476389824 None None I
V/K 0.5478 ambiguous 0.5627 ambiguous -1.434 Destabilizing 0.726 D 0.729 prob.delet. None None None None I
V/L 0.1817 likely_benign 0.1974 benign -0.694 Destabilizing 0.001 N 0.261 neutral N 0.484124804 None None I
V/M 0.1339 likely_benign 0.1419 benign -1.001 Destabilizing 0.396 N 0.56 neutral None None None None I
V/N 0.5301 ambiguous 0.548 ambiguous -1.674 Destabilizing 0.89 D 0.805 deleterious None None None None I
V/P 0.982 likely_pathogenic 0.9825 pathogenic -1.078 Destabilizing 0.89 D 0.759 deleterious None None None None I
V/Q 0.4055 ambiguous 0.438 ambiguous -1.641 Destabilizing 0.89 D 0.755 deleterious None None None None I
V/R 0.5472 ambiguous 0.5549 ambiguous -1.202 Destabilizing 0.726 D 0.807 deleterious None None None None I
V/S 0.3934 ambiguous 0.413 ambiguous -2.293 Highly Destabilizing 0.726 D 0.701 prob.neutral None None None None I
V/T 0.2595 likely_benign 0.285 benign -2.002 Highly Destabilizing 0.272 N 0.517 neutral None None None None I
V/W 0.8923 likely_pathogenic 0.9037 pathogenic -1.625 Destabilizing 0.968 D 0.749 deleterious None None None None I
V/Y 0.6577 likely_pathogenic 0.6879 pathogenic -1.278 Destabilizing 0.726 D 0.736 prob.delet. 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.