Structural position:

  • Domain Type: Ig
  • Aligned Position: 72
  • 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/F 3190 Ig-22 44 rs370856494 0.1433 -1.335 0.062 N 0.416 0.079 None gnomAD-2.1.1 7.97E-05 None None None None N None 0 0 None 0 0 None 6.53253E-04 None 0 0 0
V/F 3190 Ig-22 44 rs370856494 0.1433 -1.335 0.062 N 0.416 0.079 None gnomAD-3.1.2 3.29E-05 None None None None N None 0 0 0 0 0 None 0 0 0 1.03605E-03 0
V/F 3190 Ig-22 44 rs370856494 0.1433 -1.335 0.062 N 0.416 0.079 None 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 0 None None None 1E-03 None
V/F 3190 Ig-22 44 rs370856494 0.1433 -1.335 0.062 N 0.416 0.079 None gnomAD-4.0.0 3.53145E-05 None None None None N None 0 0 None 0 0 None 0 0 2.54238E-06 5.59947E-04 4.79939E-05
P/A 13917 Ig-89 42 rs2060335468 0.1528 None 0.999 D 0.731 0.361 0.252681307341 gnomAD-3.1.2 6.59E-06 None None None None N None 2.42E-05 0 0 0 0 None 0 0 0 0 0
P/A 13917 Ig-89 42 rs2060335468 0.1528 None 0.999 D 0.731 0.361 0.252681307341 gnomAD-4.0.0 6.58709E-06 None None None None N None 2.41885E-05 0 None 0 0 None 0 0 0 0 0
P/R 13917 Ig-89 42 rs754567722 0.4876 0.318 1.0 D 0.769 0.358 0.417081434665 gnomAD-2.1.1 2.31E-05 None None None None N None 0 0 None 0 0 None 1.82123E-04 None 0 0 0
P/R 13917 Ig-89 42 rs754567722 0.4876 0.318 1.0 D 0.769 0.358 0.417081434665 gnomAD-3.1.2 1.32E-05 None None None None N None 0 0 0 0 0 None 0 0 0 4.158E-04 0
P/R 13917 Ig-89 42 rs754567722 0.4876 0.318 1.0 D 0.769 0.358 0.417081434665 gnomAD-4.0.0 1.00418E-05 None None None None N None 0 0 None 0 0 None 0 0 0 1.80766E-04 0
P/S 13917 Ig-89 42 None 0.386 None 1.0 N 0.762 0.321 0.21737058555 gnomAD-4.0.0 6.93544E-07 None None None None N None 0 0 None 0 0 None 0 0 9.08328E-07 0 0
D/N 33539 Ig-158 44 rs879142934 0.1873 -0.173 0.998 N 0.655 0.42 None gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.89E-06 0
D/N 33539 Ig-158 44 rs879142934 0.1873 -0.173 0.998 N 0.655 0.42 None 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
D/N 33539 Ig-158 44 rs879142934 0.1873 -0.173 0.998 N 0.655 0.42 None gnomAD-4.0.0 2.56256E-06 None None None None N None 1.69125E-05 0 None 0 0 None 0 0 0 0 2.84511E-05
D/V 33539 Ig-158 44 rs762709113 0.754 0.118 0.997 D 0.729 0.644 0.794817679611 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.67E-05 0
D/V 33539 Ig-158 44 rs762709113 0.754 0.118 0.997 D 0.729 0.644 0.794817679611 gnomAD-4.0.0 1.43244E-05 None None None None N None 0 0 None 0 0 None 1.88281E-05 0 2.0011E-05 0 3.02535E-05

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.