Structural position:

  • Domain Type: Ig
  • Aligned Position: 57
  • 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
V/E 6894 Ig-53 41 rs770809224 0.3455 -0.658 0.051 N 0.278 0.268 0.729473838802 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.57E-05 None 0 None 0 0 0
V/G 6894 Ig-53 41 None 0.2428 None 0.966 N 0.425 0.439 0.883596567177 gnomAD-4.0.0 1.59268E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86059E-06 0 0
V/L 6894 Ig-53 41 rs774362265 0.1918 -0.172 0.005 N 0.189 0.186 0.318540980066 gnomAD-2.1.1 4.03E-06 None None None None N None 6.47E-05 0 None 0 0 None 0 None 0 0 0
V/L 6894 Ig-53 41 rs774362265 0.1918 -0.172 0.005 N 0.189 0.186 0.318540980066 gnomAD-3.1.2 1.97E-05 None None None None N None 2.41E-05 0 0 0 0 None 0 0 2.94E-05 0 0
V/L 6894 Ig-53 41 rs774362265 0.1918 -0.172 0.005 N 0.189 0.186 0.318540980066 gnomAD-4.0.0 1.67373E-05 None None None None N None 1.33547E-05 0 None 0 0 None 0 0 2.20436E-05 0 0
V/F 7835 Ig-63 41 None 0.2083 None 0.901 N 0.471 0.287 0.695974831096 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
V/I 7835 Ig-63 41 rs757420766 0.0669 -0.348 0.003 N 0.184 0.061 0.260735089382 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 5.57E-05 None 0 None 0 0 0
V/I 7835 Ig-63 41 rs757420766 0.0669 -0.348 0.003 N 0.184 0.061 0.260735089382 gnomAD-4.0.0 1.20032E-06 None None None None N None 6.33473E-05 0 None 0 0 None 0 0 0 0 0
I/L 8776 Ig-73 41 rs746071731 0.097 -0.022 None N 0.337 0.176 0.0666544352282 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.57E-05 None 0 None 0 0 0
I/L 8776 Ig-73 41 rs746071731 0.097 -0.022 None N 0.337 0.176 0.0666544352282 gnomAD-4.0.0 1.59158E-06 None None None None N None 0 0 None 0 2.77285E-05 None 0 0 0 0 0
I/M 8776 Ig-73 41 None 0.0726 None 0.005 N 0.376 0.216 0.0884992946249 gnomAD-4.0.0 6.84287E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99536E-07 0 0
I/V 8776 Ig-73 41 rs746071731 0.0647 -0.562 None N 0.192 0.144 0.119812018005 gnomAD-2.1.1 8.07E-06 None None None None N None 0 5.8E-05 None 0 0 None 0 None 0 0 0
I/V 8776 Ig-73 41 rs746071731 0.0647 -0.562 None N 0.192 0.144 0.119812018005 gnomAD-3.1.2 6.57E-06 None None None None N None 0 6.55E-05 0 0 0 None 0 0 0 0 0
I/V 8776 Ig-73 41 rs746071731 0.0647 -0.562 None N 0.192 0.144 0.119812018005 gnomAD-4.0.0 5.1251E-06 None None None None N None 0 6.78104E-05 None 0 0 None 0 0 0 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.