Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC694821067;21068;21069 chr2:178724533;178724532;178724531chr2:179589260;179589259;179589258
N2AB663120116;20117;20118 chr2:178724533;178724532;178724531chr2:179589260;179589259;179589258
N2A570417335;17336;17337 chr2:178724533;178724532;178724531chr2:179589260;179589259;179589258
N2BNoneNone chr2:Nonechr2:None
Novex-1NoneNone chr2:Nonechr2:None
Novex-2NoneNone chr2:Nonechr2:None
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: A
  • RefSeq wild type transcript codon: GCA
  • RefSeq wild type template codon: CGT
  • Domain: Ig-54
  • Domain position: 1
  • Structural Position: 1
  • Q(SASA): 0.2612
  • 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
A/P None None 1.0 N 0.85 0.389 0.223146558224 gnomAD-4.0.0 6.99022E-07 None None None None N None 0 0 None 0 0 None 1.90534E-05 0 0 0 0
A/S None None 0.997 N 0.6 0.28 0.218112801441 gnomAD-4.0.0 6.99023E-07 None None None None N None 0 0 None 0 2.55689E-05 None 0 0 0 0 0
A/T rs147210608 -1.098 0.977 N 0.441 0.288 None gnomAD-2.1.1 4.57E-05 None None None None N None 0 1.23854E-04 None 0 0 None 1.13054E-04 None 4.17E-05 3.29E-05 0
A/T rs147210608 -1.098 0.977 N 0.441 0.288 None gnomAD-3.1.2 3.95E-05 None None None None N None 2.42E-05 6.55E-05 0 0 0 None 9.44E-05 0 4.41E-05 0 0
A/T rs147210608 -1.098 0.977 N 0.441 0.288 None 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 0 1E-03 None None None 0 None
A/T rs147210608 -1.098 0.977 N 0.441 0.288 None gnomAD-4.0.0 2.46414E-05 None None None None N None 1.35377E-05 7.06739E-05 None 0 0 None 6.34115E-05 0 2.15163E-05 3.44598E-05 3.28407E-05

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
A/C 0.9219 likely_pathogenic 0.9171 pathogenic -1.135 Destabilizing 1.0 D 0.785 deleterious None None None None N
A/D 0.993 likely_pathogenic 0.9914 pathogenic -1.288 Destabilizing 1.0 D 0.819 deleterious None None None None N
A/E 0.9889 likely_pathogenic 0.9851 pathogenic -1.333 Destabilizing 0.999 D 0.825 deleterious N 0.506538507 None None N
A/F 0.99 likely_pathogenic 0.9896 pathogenic -1.102 Destabilizing 1.0 D 0.845 deleterious None None None None N
A/G 0.546 ambiguous 0.5696 pathogenic -1.17 Destabilizing 0.998 D 0.637 neutral N 0.506538507 None None N
A/H 0.9969 likely_pathogenic 0.9963 pathogenic -1.218 Destabilizing 1.0 D 0.825 deleterious None None None None N
A/I 0.931 likely_pathogenic 0.9294 pathogenic -0.474 Destabilizing 0.999 D 0.853 deleterious None None None None N
A/K 0.9983 likely_pathogenic 0.9977 pathogenic -1.148 Destabilizing 1.0 D 0.834 deleterious None None None None N
A/L 0.8835 likely_pathogenic 0.8889 pathogenic -0.474 Destabilizing 0.997 D 0.702 prob.neutral None None None None N
A/M 0.9448 likely_pathogenic 0.949 pathogenic -0.466 Destabilizing 1.0 D 0.821 deleterious None None None None N
A/N 0.9891 likely_pathogenic 0.9876 pathogenic -0.927 Destabilizing 1.0 D 0.829 deleterious None None None None N
A/P 0.6101 likely_pathogenic 0.4266 ambiguous -0.59 Destabilizing 1.0 D 0.85 deleterious N 0.345104049 None None N
A/Q 0.9903 likely_pathogenic 0.9887 pathogenic -1.139 Destabilizing 1.0 D 0.861 deleterious None None None None N
A/R 0.9935 likely_pathogenic 0.9921 pathogenic -0.775 Destabilizing 1.0 D 0.857 deleterious None None None None N
A/S 0.4048 ambiguous 0.4244 ambiguous -1.287 Destabilizing 0.997 D 0.6 neutral N 0.47725575 None None N
A/T 0.7171 likely_pathogenic 0.7149 pathogenic -1.242 Destabilizing 0.977 D 0.441 neutral N 0.507578657 None None N
A/V 0.6994 likely_pathogenic 0.707 pathogenic -0.59 Destabilizing 0.996 D 0.649 neutral N 0.508098732 None None N
A/W 0.999 likely_pathogenic 0.9988 pathogenic -1.368 Destabilizing 1.0 D 0.821 deleterious None None None None N
A/Y 0.9961 likely_pathogenic 0.9954 pathogenic -0.983 Destabilizing 1.0 D 0.835 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.