Structural position:

  • Domain Type: Ig
  • Aligned Position: 142
  • 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
N/I 33657 Ig-159 62 rs769340667 0.3497 0.163 0.999 N 0.728 0.341 0.372087925617 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.9E-06 0
N/K 33657 Ig-159 62 rs747456613 0.3338 0.274 0.731 N 0.233 0.14 0.134241683229 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 5.56E-05 None 0 None 0 0 0
N/K 33657 Ig-159 62 rs747456613 0.3338 0.274 0.731 N 0.233 0.14 0.134241683229 gnomAD-4.0.0 6.84218E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99483E-07 0 0
N/S 33657 Ig-159 62 rs769340667 0.0704 0.022 0.943 N 0.501 0.162 0.17948927462 gnomAD-2.1.1 1.21E-05 None None None None N None 0 5.8E-05 None 0 0 None 0 None 0 8.9E-06 0
N/S 33657 Ig-159 62 rs769340667 0.0704 0.022 0.943 N 0.501 0.162 0.17948927462 gnomAD-4.0.0 6.15797E-06 None None None None N None 0 6.70811E-05 None 0 0 None 0 0 5.3969E-06 0 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.