Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC34333103222;103223;103224 chr2:178533618;178533617;178533616chr2:179398345;179398344;179398343
N2AB3269298299;98300;98301 chr2:178533618;178533617;178533616chr2:179398345;179398344;179398343
N2A3176595518;95519;95520 chr2:178533618;178533617;178533616chr2:179398345;179398344;179398343
N2B2526876027;76028;76029 chr2:178533618;178533617;178533616chr2:179398345;179398344;179398343
Novex-12539376402;76403;76404 chr2:178533618;178533617;178533616chr2:179398345;179398344;179398343
Novex-22546076603;76604;76605 chr2:178533618;178533617;178533616chr2:179398345;179398344;179398343
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTT
  • RefSeq wild type template codon: CAA
  • Domain: Ig-161
  • Domain position: 76
  • Structural Position: 156
  • Q(SASA): 0.0542
  • 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
V/A None None 0.822 N 0.697 0.329 0.470566500458 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-06 0 0
V/I rs763815899 0.241 0.014 N 0.319 0.032 0.126345400529 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 5.57E-05 None 0 None 0 0 0
V/I rs763815899 0.241 0.014 N 0.319 0.032 0.126345400529 gnomAD-4.0.0 3.182E-06 None None None None N None 0 0 None 0 2.77269E-05 None 0 0 2.85768E-06 0 0
V/L rs763815899 0.238 0.247 N 0.554 0.123 0.239305524855 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.86E-06 0
V/L rs763815899 0.238 0.247 N 0.554 0.123 0.239305524855 gnomAD-4.0.0 1.591E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85768E-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
V/A 0.6227 likely_pathogenic 0.6264 pathogenic -1.597 Destabilizing 0.822 D 0.697 prob.neutral N 0.457234689 None None N
V/C 0.9328 likely_pathogenic 0.9412 pathogenic -0.962 Destabilizing 0.998 D 0.761 deleterious None None None None N
V/D 0.9968 likely_pathogenic 0.9982 pathogenic -2.409 Highly Destabilizing 0.99 D 0.857 deleterious N 0.475601616 None None N
V/E 0.991 likely_pathogenic 0.9947 pathogenic -2.097 Highly Destabilizing 0.993 D 0.859 deleterious None None None None N
V/F 0.829 likely_pathogenic 0.8675 pathogenic -0.837 Destabilizing 0.942 D 0.785 deleterious N 0.474080679 None None N
V/G 0.9252 likely_pathogenic 0.9305 pathogenic -2.213 Highly Destabilizing 0.971 D 0.859 deleterious N 0.475601616 None None N
V/H 0.9976 likely_pathogenic 0.9986 pathogenic -2.313 Highly Destabilizing 0.998 D 0.863 deleterious None None None None N
V/I 0.0851 likely_benign 0.1027 benign 0.171 Stabilizing 0.014 N 0.319 neutral N 0.489480394 None None N
V/K 0.9951 likely_pathogenic 0.9966 pathogenic -1.036 Destabilizing 0.978 D 0.861 deleterious None None None None N
V/L 0.5497 ambiguous 0.5588 ambiguous 0.171 Stabilizing 0.247 N 0.554 neutral N 0.43883322 None None N
V/M 0.5357 ambiguous 0.5911 pathogenic -0.057 Destabilizing 0.956 D 0.671 neutral None None None None N
V/N 0.9889 likely_pathogenic 0.9939 pathogenic -1.653 Destabilizing 0.993 D 0.881 deleterious None None None None N
V/P 0.9919 likely_pathogenic 0.9965 pathogenic -0.395 Destabilizing 0.993 D 0.859 deleterious None None None None N
V/Q 0.9912 likely_pathogenic 0.9941 pathogenic -1.281 Destabilizing 0.993 D 0.876 deleterious None None None None N
V/R 0.9895 likely_pathogenic 0.9924 pathogenic -1.348 Destabilizing 0.993 D 0.883 deleterious None None None None N
V/S 0.9371 likely_pathogenic 0.956 pathogenic -2.196 Highly Destabilizing 0.978 D 0.853 deleterious None None None None N
V/T 0.805 likely_pathogenic 0.8377 pathogenic -1.715 Destabilizing 0.86 D 0.733 prob.delet. None None None None N
V/W 0.9981 likely_pathogenic 0.999 pathogenic -1.461 Destabilizing 0.998 D 0.847 deleterious None None None None N
V/Y 0.9903 likely_pathogenic 0.9938 pathogenic -0.991 Destabilizing 0.978 D 0.776 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.