Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC951728774;28775;28776 chr2:178709770;178709769;178709768chr2:179574497;179574496;179574495
N2AB920027823;27824;27825 chr2:178709770;178709769;178709768chr2:179574497;179574496;179574495
N2A827325042;25043;25044 chr2:178709770;178709769;178709768chr2:179574497;179574496;179574495
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: V
  • RefSeq wild type transcript codon: GTG
  • RefSeq wild type template codon: CAC
  • Domain: Ig-81
  • Domain position: 25
  • Structural Position: 35
  • Q(SASA): 0.1385
  • 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 0.999 None 0.603 0.596 0.644821044561 gnomAD-4.0.0 2.40065E-06 None None None None N None 0 0 None 0 0 None 0 0 2.62501E-06 0 0
V/M None None 1.0 None 0.758 0.537 0.696542326487 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

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 0.5685 likely_pathogenic 0.6081 pathogenic -1.739 Destabilizing 0.999 D 0.603 neutral None None None None N
V/C 0.954 likely_pathogenic 0.9603 pathogenic -1.585 Destabilizing 1.0 D 0.833 deleterious None None None None N
V/D 0.9968 likely_pathogenic 0.9979 pathogenic -1.425 Destabilizing 1.0 D 0.871 deleterious None None None None N
V/E 0.9901 likely_pathogenic 0.9927 pathogenic -1.192 Destabilizing 1.0 D 0.865 deleterious None None None None N
V/F 0.7194 likely_pathogenic 0.7827 pathogenic -0.988 Destabilizing 1.0 D 0.844 deleterious None None None None N
V/G 0.8276 likely_pathogenic 0.8608 pathogenic -2.298 Highly Destabilizing 1.0 D 0.862 deleterious None None None None N
V/H 0.9966 likely_pathogenic 0.9974 pathogenic -2.001 Highly Destabilizing 1.0 D 0.871 deleterious None None None None N
V/I 0.148 likely_benign 0.1584 benign -0.183 Destabilizing 0.998 D 0.537 neutral None None None None N
V/K 0.995 likely_pathogenic 0.9963 pathogenic -1.153 Destabilizing 1.0 D 0.867 deleterious None None None None N
V/L 0.6536 likely_pathogenic 0.7286 pathogenic -0.183 Destabilizing 0.997 D 0.621 neutral None None None None N
V/M 0.6755 likely_pathogenic 0.742 pathogenic -0.48 Destabilizing 1.0 D 0.758 deleterious None None None None N
V/N 0.9911 likely_pathogenic 0.9938 pathogenic -1.441 Destabilizing 1.0 D 0.892 deleterious None None None None N
V/P 0.987 likely_pathogenic 0.9893 pathogenic -0.673 Destabilizing 1.0 D 0.867 deleterious None None None None N
V/Q 0.9901 likely_pathogenic 0.9925 pathogenic -1.207 Destabilizing 1.0 D 0.89 deleterious None None None None N
V/R 0.9882 likely_pathogenic 0.9908 pathogenic -1.22 Destabilizing 1.0 D 0.892 deleterious None None None None N
V/S 0.9175 likely_pathogenic 0.9337 pathogenic -2.25 Highly Destabilizing 1.0 D 0.857 deleterious None None None None N
V/T 0.7747 likely_pathogenic 0.7857 pathogenic -1.843 Destabilizing 0.999 D 0.595 neutral None None None None N
V/W 0.9958 likely_pathogenic 0.9972 pathogenic -1.347 Destabilizing 1.0 D 0.849 deleterious None None None None N
V/Y 0.9796 likely_pathogenic 0.9862 pathogenic -0.961 Destabilizing 1.0 D 0.845 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.