Structural position:

  • Domain Type: Ig
  • Aligned Position: 67
  • 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
D/E 18428 Ig-115 47 rs1343753783 0.1291 -0.618 0.001 N 0.2 0.026 0.0551355673512 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.96E-06 0
D/E 18428 Ig-115 47 rs1343753783 0.1291 -0.618 0.001 N 0.2 0.026 0.0551355673512 gnomAD-4.0.0 6.84838E-07 None None None None N None 0 0 None 0 0 None 0 0 8.9993E-07 0 0
D/G 18428 Ig-115 47 rs1430526014 0.1573 -0.758 0.027 N 0.505 0.09 0.12205267543 gnomAD-2.1.1 4.05E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
D/G 18428 Ig-115 47 rs1430526014 0.1573 -0.758 0.027 N 0.505 0.09 0.12205267543 gnomAD-4.0.0 1.59451E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43505E-05 0
D/N 18428 Ig-115 47 None 0.0644 None None N 0.221 0.077 0.110078149338 gnomAD-4.0.0 1.20033E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31251E-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.