Structural position:

  • Domain Type: Ig
  • Aligned Position: 6
  • Secondary Structure Element:
  • Secondary Structure Region:

SAVs

SAV Position (IC) Domain Position (Domain) RS
AlphaMissense (IC)
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
K/T 24034 Ig-131 6 None 0.1438 None 0.062 N 0.437 0.183 0.223146558224 gnomAD-4.0.0 1.59204E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85945E-06 0 0
K/Q 25116 Ig-134 6 rs900765170 0.1358 None 0.983 N 0.722 0.248 0.277730125212 gnomAD-3.1.2 6.57E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
K/Q 25116 Ig-134 6 rs900765170 0.1358 None 0.983 N 0.722 0.248 0.277730125212 gnomAD-4.0.0 2.03E-06 None None None None N None 3.49553E-05 0 None 0 0 None 0 0 0 0 0
K/T 27280 Ig-140 3 None 0.2023 None 0.942 N 0.566 0.355 0.426787303895 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 0 6.07533E-05 0

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.