Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3200796244;96245;96246 chr2:178544210;178544209;178544208chr2:179408937;179408936;179408935
N2AB3036691321;91322;91323 chr2:178544210;178544209;178544208chr2:179408937;179408936;179408935
N2A2943988540;88541;88542 chr2:178544210;178544209;178544208chr2:179408937;179408936;179408935
N2B2294269049;69050;69051 chr2:178544210;178544209;178544208chr2:179408937;179408936;179408935
Novex-12306769424;69425;69426 chr2:178544210;178544209;178544208chr2:179408937;179408936;179408935
Novex-22313469625;69626;69627 chr2:178544210;178544209;178544208chr2:179408937;179408936;179408935
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: E
  • RefSeq wild type transcript codon: GAA
  • RefSeq wild type template codon: CTT
  • Domain: Fn3-121
  • Domain position: 99
  • Structural Position: 132
  • Q(SASA): 0.8494
  • Predicted PPI site: N

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
E/D rs569522219 -0.105 0.997 N 0.595 0.144 0.281381271821 gnomAD-2.1.1 4.03E-06 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 0 0
E/D rs569522219 -0.105 0.997 N 0.595 0.144 0.281381271821 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
E/D rs569522219 -0.105 0.997 N 0.595 0.144 0.281381271821 1000 genomes 1.99681E-04 None None None None N None 8E-04 0 None None 0 0 None None None 0 None
E/D rs569522219 -0.105 0.997 N 0.595 0.144 0.281381271821 gnomAD-4.0.0 6.56521E-06 None None None None N None 2.40523E-05 0 None 0 0 None 0 0 0 0 0
E/G rs1205390409 None 0.999 N 0.622 0.473 0.608345586348 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
E/G rs1205390409 None 0.999 N 0.622 0.473 0.608345586348 gnomAD-4.0.0 6.57039E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47003E-05 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
E/A 0.5297 ambiguous 0.4901 ambiguous -0.195 Destabilizing 0.997 D 0.745 deleterious N 0.495959807 None None N
E/C 0.9743 likely_pathogenic 0.9691 pathogenic -0.107 Destabilizing 1.0 D 0.825 deleterious None None None None N
E/D 0.1704 likely_benign 0.1812 benign -0.252 Destabilizing 0.997 D 0.595 neutral N 0.441973393 None None N
E/F 0.972 likely_pathogenic 0.9649 pathogenic -0.115 Destabilizing 1.0 D 0.749 deleterious None None None None N
E/G 0.5795 likely_pathogenic 0.5105 ambiguous -0.356 Destabilizing 0.999 D 0.622 neutral N 0.501479634 None None N
E/H 0.9047 likely_pathogenic 0.8884 pathogenic 0.308 Stabilizing 1.0 D 0.809 deleterious None None None None N
E/I 0.8725 likely_pathogenic 0.8429 pathogenic 0.182 Stabilizing 0.999 D 0.753 deleterious None None None None N
E/K 0.7216 likely_pathogenic 0.661 pathogenic 0.406 Stabilizing 0.997 D 0.733 deleterious N 0.492957257 None None N
E/L 0.8327 likely_pathogenic 0.8049 pathogenic 0.182 Stabilizing 0.999 D 0.707 prob.delet. None None None None N
E/M 0.8804 likely_pathogenic 0.854 pathogenic 0.102 Stabilizing 1.0 D 0.811 deleterious None None None None N
E/N 0.607 likely_pathogenic 0.5915 pathogenic 0.097 Stabilizing 0.999 D 0.808 deleterious None None None None N
E/P 0.7491 likely_pathogenic 0.7386 pathogenic 0.076 Stabilizing 0.999 D 0.785 deleterious None None None None N
E/Q 0.4959 ambiguous 0.4478 ambiguous 0.129 Stabilizing 0.999 D 0.655 prob.neutral N 0.482361421 None None N
E/R 0.8289 likely_pathogenic 0.7927 pathogenic 0.632 Stabilizing 0.999 D 0.809 deleterious None None None None N
E/S 0.5728 likely_pathogenic 0.5305 ambiguous -0.05 Destabilizing 0.998 D 0.758 deleterious None None None None N
E/T 0.7449 likely_pathogenic 0.7053 pathogenic 0.087 Stabilizing 0.999 D 0.797 deleterious None None None None N
E/V 0.7244 likely_pathogenic 0.6761 pathogenic 0.076 Stabilizing 0.999 D 0.728 deleterious N 0.501733123 None None N
E/W 0.9874 likely_pathogenic 0.9838 pathogenic -0.004 Destabilizing 1.0 D 0.823 deleterious None None None None N
E/Y 0.9344 likely_pathogenic 0.9218 pathogenic 0.121 Stabilizing 1.0 D 0.773 deleterious None None None None N

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.