Structural position:

  • Domain Type: Ig
  • Aligned Position: 94
  • 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
E/A 17312 Ig-112 62 None 0.1009 None 0.027 N 0.259 0.134 0.263140351381 gnomAD-4.0.0 1.20037E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31252E-06 0 0
E/K 17312 Ig-112 62 rs749451611 0.101 0.746 None N 0.141 0.132 0.208816687407 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
E/K 17312 Ig-112 62 rs749451611 0.101 0.746 None N 0.141 0.132 0.208816687407 gnomAD-4.0.0 3.42426E-06 None None None None N None 0 0 None 0 0 None 0 0 0 4.64231E-05 1.65953E-05
E/Q 17312 Ig-112 62 rs749451611 0.1084 -0.416 None N 0.168 0.049 0.239901079897 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
E/Q 17312 Ig-112 62 rs749451611 0.1084 -0.416 None N 0.168 0.049 0.239901079897 gnomAD-4.0.0 1.3697E-06 None None None None N None 0 0 None 0 0 None 0 0 9.00014E-07 1.16058E-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.