Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC29108953;8954;8955 chr2:178769853;178769852;178769851chr2:179634580;179634579;179634578
N2AB29108953;8954;8955 chr2:178769853;178769852;178769851chr2:179634580;179634579;179634578
N2A29108953;8954;8955 chr2:178769853;178769852;178769851chr2:179634580;179634579;179634578
N2B28648815;8816;8817 chr2:178769853;178769852;178769851chr2:179634580;179634579;179634578
Novex-128648815;8816;8817 chr2:178769853;178769852;178769851chr2:179634580;179634579;179634578
Novex-228648815;8816;8817 chr2:178769853;178769852;178769851chr2:179634580;179634579;179634578
Novex-329108953;8954;8955 chr2:178769853;178769852;178769851chr2:179634580;179634579;179634578

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTC
  • RefSeq wild type template codon: CAG
  • Domain: Ig-19
  • Domain position: 29
  • Structural Position: 43
  • Q(SASA): 0.1457
  • 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/I None None 0.767 N 0.405 0.213 0.646496053153 gnomAD-4.0.0 1.59049E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85652E-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 0.9083 likely_pathogenic 0.854 pathogenic -1.145 Destabilizing 0.998 D 0.664 neutral N 0.461906376 None None N
V/C 0.9781 likely_pathogenic 0.967 pathogenic -0.628 Destabilizing 1.0 D 0.798 deleterious None None None None N
V/D 0.9927 likely_pathogenic 0.9879 pathogenic -0.987 Destabilizing 1.0 D 0.809 deleterious D 0.609636141 None None N
V/E 0.9712 likely_pathogenic 0.9583 pathogenic -1.031 Destabilizing 1.0 D 0.794 deleterious None None None None N
V/F 0.8686 likely_pathogenic 0.8363 pathogenic -1.03 Destabilizing 0.999 D 0.818 deleterious D 0.649143123 None None N
V/G 0.9542 likely_pathogenic 0.9283 pathogenic -1.41 Destabilizing 1.0 D 0.789 deleterious D 0.649250399 None None N
V/H 0.9922 likely_pathogenic 0.9891 pathogenic -1.049 Destabilizing 1.0 D 0.796 deleterious None None None None N
V/I 0.1957 likely_benign 0.1866 benign -0.538 Destabilizing 0.767 D 0.405 neutral N 0.518930747 None None N
V/K 0.9797 likely_pathogenic 0.9719 pathogenic -0.966 Destabilizing 1.0 D 0.8 deleterious None None None None N
V/L 0.881 likely_pathogenic 0.8484 pathogenic -0.538 Destabilizing 0.981 D 0.619 neutral N 0.514075182 None None N
V/M 0.8161 likely_pathogenic 0.7568 pathogenic -0.356 Destabilizing 1.0 D 0.793 deleterious None None None None N
V/N 0.9823 likely_pathogenic 0.9724 pathogenic -0.607 Destabilizing 1.0 D 0.81 deleterious None None None None N
V/P 0.9911 likely_pathogenic 0.9858 pathogenic -0.705 Destabilizing 1.0 D 0.817 deleterious None None None None N
V/Q 0.9688 likely_pathogenic 0.956 pathogenic -0.808 Destabilizing 1.0 D 0.817 deleterious None None None None N
V/R 0.9676 likely_pathogenic 0.9587 pathogenic -0.459 Destabilizing 1.0 D 0.809 deleterious None None None None N
V/S 0.9442 likely_pathogenic 0.9119 pathogenic -1.031 Destabilizing 1.0 D 0.799 deleterious None None None None N
V/T 0.8983 likely_pathogenic 0.8572 pathogenic -0.967 Destabilizing 0.998 D 0.749 deleterious None None None None N
V/W 0.9983 likely_pathogenic 0.9974 pathogenic -1.191 Destabilizing 1.0 D 0.791 deleterious None None None None N
V/Y 0.9839 likely_pathogenic 0.9792 pathogenic -0.904 Destabilizing 1.0 D 0.827 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.