Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2845085573;85574;85575 chr2:178560784;178560783;178560782chr2:179425511;179425510;179425509
N2AB2680980650;80651;80652 chr2:178560784;178560783;178560782chr2:179425511;179425510;179425509
N2A2588277869;77870;77871 chr2:178560784;178560783;178560782chr2:179425511;179425510;179425509
N2B1938558378;58379;58380 chr2:178560784;178560783;178560782chr2:179425511;179425510;179425509
Novex-11951058753;58754;58755 chr2:178560784;178560783;178560782chr2:179425511;179425510;179425509
Novex-21957758954;58955;58956 chr2:178560784;178560783;178560782chr2:179425511;179425510;179425509
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: K
  • RefSeq wild type transcript codon: AAG
  • RefSeq wild type template codon: TTC
  • Domain: Fn3-95
  • Domain position: 1
  • Structural Position: 1
  • Q(SASA): 0.4507
  • Predicted PPI site: I

Reported SAVs

SNV RS
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
K/N rs373453778 -0.068 0.058 N 0.319 0.151 0.107399877778 gnomAD-2.1.1 8.05E-06 None None None None I None 0 0 None 0 0 None 0 None 0 1.78E-05 0
K/N rs373453778 -0.068 0.058 N 0.319 0.151 0.107399877778 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
K/N rs373453778 -0.068 0.058 N 0.319 0.151 0.107399877778 gnomAD-4.0.0 3.42125E-06 None None None None I None 0 0 None 0 0 None 0 0 4.4973E-06 0 0

Saturation Mutagenesis

SAV
AlphaMissense (IC)
AlphaMissense Class (IC)
AlphaMissense (N2AB)
AlphaMissense Class (N2AB)
mCSM
mCSM class
PolyPhen-2
PolyPhen-2 Class
Rhapsody
Rhapsody Class
Condel
Condel Score
Site annotation
mCSM PPI
Predicted PPI site
K/A 0.5099 ambiguous 0.4868 ambiguous -0.177 Destabilizing 0.016 N 0.476 neutral None None None None I
K/C 0.6038 likely_pathogenic 0.5696 pathogenic -0.309 Destabilizing 0.869 D 0.408 neutral None None None None I
K/D 0.8925 likely_pathogenic 0.8951 pathogenic 0.216 Stabilizing 0.075 N 0.571 neutral None None None None I
K/E 0.3693 ambiguous 0.3796 ambiguous 0.242 Stabilizing 0.012 N 0.447 neutral N 0.474810327 None None I
K/F 0.8341 likely_pathogenic 0.8256 pathogenic -0.258 Destabilizing 0.221 N 0.533 neutral None None None None I
K/G 0.7068 likely_pathogenic 0.6643 pathogenic -0.424 Destabilizing 0.075 N 0.502 neutral None None None None I
K/H 0.4277 ambiguous 0.4107 ambiguous -0.72 Destabilizing 0.366 N 0.446 neutral None None None None I
K/I 0.2843 likely_benign 0.278 benign 0.403 Stabilizing 0.039 N 0.492 neutral None None None None I
K/L 0.4578 ambiguous 0.4318 ambiguous 0.403 Stabilizing 0.016 N 0.46 neutral None None None None I
K/M 0.2878 likely_benign 0.2794 benign 0.298 Stabilizing 0.303 N 0.45 neutral N 0.486673612 None None I
K/N 0.6852 likely_pathogenic 0.6908 pathogenic 0.146 Stabilizing 0.058 N 0.319 neutral N 0.486673612 None None I
K/P 0.7999 likely_pathogenic 0.7976 pathogenic 0.239 Stabilizing 0.366 N 0.528 neutral None None None None I
K/Q 0.193 likely_benign 0.1807 benign -0.069 Destabilizing 0.058 N 0.372 neutral N 0.486673612 None None I
K/R 0.0718 likely_benign 0.0655 benign -0.095 Destabilizing None N 0.095 neutral N 0.397853604 None None I
K/S 0.613 likely_pathogenic 0.5895 pathogenic -0.477 Destabilizing 0.075 N 0.37 neutral None None None None I
K/T 0.2198 likely_benign 0.2236 benign -0.284 Destabilizing 0.058 N 0.539 neutral N 0.477277179 None None I
K/V 0.2724 likely_benign 0.2724 benign 0.239 Stabilizing None N 0.271 neutral None None None None I
K/W 0.8467 likely_pathogenic 0.8231 pathogenic -0.165 Destabilizing 0.869 D 0.513 neutral None None None None I
K/Y 0.7114 likely_pathogenic 0.7023 pathogenic 0.165 Stabilizing 0.366 N 0.533 neutral None None None None I

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.