Structural position:

  • Domain Type: Ig
  • Aligned Position: 17
  • Secondary Structure Element: e
  • Secondary Structure Region: β-strand A'

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 6679 Ig-51 13 None 0.6713 None 0.669 D 0.569 0.653 0.857261922848 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 2.75482E-04 None 0 0 0 0 0
V/L 6679 Ig-51 13 None 0.1632 None 0.008 N 0.394 0.179 0.552492811922 gnomAD-4.0.0 6.86256E-07 None None None None N None 0 0 None 0 0 None 0 0 9.0137E-07 0 0
A/S 7620 Ig-61 13 rs749462228 0.1406 -1.093 0.193 N 0.4 0.248 0.346315397577 gnomAD-4.0.0 6.86986E-07 None None None None N None 0 0 None 0 0 None 0 0 9.02939E-07 0 0
A/V 7620 Ig-61 13 rs2078299503 0.095 None 0.001 N 0.103 0.14 0.301789629655 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
A/V 7620 Ig-61 13 rs2078299503 0.095 None 0.001 N 0.103 0.14 0.301789629655 gnomAD-4.0.0 2.02998E-06 None None None None N None 0 0 None 0 0 None 0 0 2.40988E-06 0 0
V/L 8561 Ig-71 13 None 0.1675 None 0.024 N 0.466 0.285 0.529110813561 gnomAD-4.0.0 6.92609E-07 None None None None I None 0 0 None 0 0 None 0 0 9.07438E-07 0 0
V/M 8561 Ig-71 13 None 0.163 None 0.172 N 0.423 0.337 0.549249573952 gnomAD-4.0.0 6.23348E-06 None None None None I None 3.01132E-05 0 None 0 0 None 0 0 7.2595E-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.