Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2676580518;80519;80520 chr2:178565839;178565838;178565837chr2:179430566;179430565;179430564
N2AB2512475595;75596;75597 chr2:178565839;178565838;178565837chr2:179430566;179430565;179430564
N2A2419772814;72815;72816 chr2:178565839;178565838;178565837chr2:179430566;179430565;179430564
N2B1770053323;53324;53325 chr2:178565839;178565838;178565837chr2:179430566;179430565;179430564
Novex-11782553698;53699;53700 chr2:178565839;178565838;178565837chr2:179430566;179430565;179430564
Novex-21789253899;53900;53901 chr2:178565839;178565838;178565837chr2:179430566;179430565;179430564
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTT
  • RefSeq wild type template codon: CAA
  • Domain: Fn3-82
  • Domain position: 83
  • Structural Position: 117
  • Q(SASA): 0.4482
  • 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/G rs1469008305 -1.328 0.317 N 0.628 0.358 0.695986974221 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 5.57E-05 None 0 None 0 0 0
V/G rs1469008305 -1.328 0.317 N 0.628 0.358 0.695986974221 gnomAD-4.0.0 1.5916E-06 None None None None I None 0 0 None 0 2.77331E-05 None 0 0 0 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
V/A 0.1369 likely_benign 0.1548 benign -1.22 Destabilizing 0.052 N 0.46 neutral N 0.492409708 None None I
V/C 0.5805 likely_pathogenic 0.62 pathogenic -0.838 Destabilizing 0.935 D 0.565 neutral None None None None I
V/D 0.5236 ambiguous 0.5605 ambiguous -1.302 Destabilizing 0.484 N 0.646 neutral N 0.470608316 None None I
V/E 0.4034 ambiguous 0.4178 ambiguous -1.393 Destabilizing 0.38 N 0.635 neutral None None None None I
V/F 0.1594 likely_benign 0.1737 benign -1.336 Destabilizing 0.317 N 0.604 neutral N 0.472925721 None None I
V/G 0.2545 likely_benign 0.28 benign -1.425 Destabilizing 0.317 N 0.628 neutral N 0.475519387 None None I
V/H 0.5803 likely_pathogenic 0.6339 pathogenic -0.92 Destabilizing 0.824 D 0.631 neutral None None None None I
V/I 0.0574 likely_benign 0.0597 benign -0.793 Destabilizing None N 0.207 neutral N 0.422549765 None None I
V/K 0.4118 ambiguous 0.4474 ambiguous -0.908 Destabilizing 0.081 N 0.636 neutral None None None None I
V/L 0.1241 likely_benign 0.1343 benign -0.793 Destabilizing None N 0.216 neutral N 0.490985556 None None I
V/M 0.1082 likely_benign 0.126 benign -0.481 Destabilizing 0.38 N 0.604 neutral None None None None I
V/N 0.2824 likely_benign 0.3359 benign -0.632 Destabilizing 0.38 N 0.647 neutral None None None None I
V/P 0.3245 likely_benign 0.3511 ambiguous -0.901 Destabilizing 0.791 D 0.648 neutral None None None None I
V/Q 0.3528 ambiguous 0.4022 ambiguous -0.97 Destabilizing 0.38 N 0.646 neutral None None None None I
V/R 0.3371 likely_benign 0.3652 ambiguous -0.248 Destabilizing 0.001 N 0.503 neutral None None None None I
V/S 0.1989 likely_benign 0.2322 benign -1.024 Destabilizing 0.149 N 0.63 neutral None None None None I
V/T 0.1124 likely_benign 0.1384 benign -1.022 Destabilizing 0.149 N 0.485 neutral None None None None I
V/W 0.7225 likely_pathogenic 0.76 pathogenic -1.393 Destabilizing 0.935 D 0.675 prob.neutral None None None None I
V/Y 0.4852 ambiguous 0.5339 ambiguous -1.114 Destabilizing 0.555 D 0.594 neutral 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.