Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2897987160;87161;87162 chr2:178558524;178558523;178558522chr2:179423251;179423250;179423249
N2AB2733882237;82238;82239 chr2:178558524;178558523;178558522chr2:179423251;179423250;179423249
N2A2641179456;79457;79458 chr2:178558524;178558523;178558522chr2:179423251;179423250;179423249
N2B1991459965;59966;59967 chr2:178558524;178558523;178558522chr2:179423251;179423250;179423249
Novex-12003960340;60341;60342 chr2:178558524;178558523;178558522chr2:179423251;179423250;179423249
Novex-22010660541;60542;60543 chr2:178558524;178558523;178558522chr2:179423251;179423250;179423249
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: Fn3-99
  • Domain position: 38
  • Structural Position: 40
  • Q(SASA): 0.1183
  • 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 rs1702361151 None 0.675 D 0.603 0.478 0.75485893091 gnomAD-4.0.0 1.59132E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43283E-05 0
V/F None None 0.972 D 0.767 0.432 0.80342950347 gnomAD-4.0.0 6.84219E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99454E-07 0 0
V/I rs201687390 -0.799 0.014 N 0.247 0.035 None gnomAD-2.1.1 2.00164E-04 None None None None N None 1.23967E-04 1.13199E-04 None 9.67E-05 1.90466E-03 None 9.81E-05 None 0 5.48E-05 1.40687E-04
V/I rs201687390 -0.799 0.014 N 0.247 0.035 None gnomAD-3.1.2 1.31458E-04 None None None None N None 1.20662E-04 1.31096E-04 0 0 1.15652E-03 None 0 0 7.35E-05 4.13736E-04 0
V/I rs201687390 -0.799 0.014 N 0.247 0.035 None gnomAD-4.0.0 1.40054E-04 None None None None N None 1.46839E-04 1.33378E-04 None 3.37838E-05 8.7007E-04 None 0 1.6442E-04 1.16968E-04 1.86637E-04 1.76118E-04

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 0.6617 likely_pathogenic 0.6063 pathogenic -2.655 Highly Destabilizing 0.675 D 0.603 neutral D 0.526500103 None None N
V/C 0.9363 likely_pathogenic 0.9199 pathogenic -2.226 Highly Destabilizing 0.996 D 0.753 deleterious None None None None N
V/D 0.9958 likely_pathogenic 0.9933 pathogenic -3.697 Highly Destabilizing 0.999 D 0.896 deleterious D 0.545364827 None None N
V/E 0.9846 likely_pathogenic 0.9785 pathogenic -3.411 Highly Destabilizing 0.996 D 0.869 deleterious None None None None N
V/F 0.5795 likely_pathogenic 0.5514 ambiguous -1.524 Destabilizing 0.972 D 0.767 deleterious D 0.545111337 None None N
V/G 0.9158 likely_pathogenic 0.8896 pathogenic -3.219 Highly Destabilizing 0.98 D 0.889 deleterious D 0.545364827 None None N
V/H 0.9938 likely_pathogenic 0.9912 pathogenic -3.008 Highly Destabilizing 1.0 D 0.875 deleterious None None None None N
V/I 0.0626 likely_benign 0.0606 benign -1.008 Destabilizing 0.014 N 0.247 neutral N 0.431366823 None None N
V/K 0.9873 likely_pathogenic 0.983 pathogenic -2.364 Highly Destabilizing 0.998 D 0.871 deleterious None None None None N
V/L 0.2286 likely_benign 0.1862 benign -1.008 Destabilizing 0.003 N 0.355 neutral N 0.509601107 None None N
V/M 0.3126 likely_benign 0.2944 benign -1.173 Destabilizing 0.928 D 0.65 neutral None None None None N
V/N 0.9854 likely_pathogenic 0.9766 pathogenic -2.949 Highly Destabilizing 0.996 D 0.9 deleterious None None None None N
V/P 0.9805 likely_pathogenic 0.9738 pathogenic -1.541 Destabilizing 0.996 D 0.871 deleterious None None None None N
V/Q 0.9799 likely_pathogenic 0.9732 pathogenic -2.668 Highly Destabilizing 0.999 D 0.889 deleterious None None None None N
V/R 0.9797 likely_pathogenic 0.9713 pathogenic -2.245 Highly Destabilizing 0.999 D 0.901 deleterious None None None None N
V/S 0.9323 likely_pathogenic 0.9056 pathogenic -3.466 Highly Destabilizing 0.998 D 0.848 deleterious None None None None N
V/T 0.6804 likely_pathogenic 0.6113 pathogenic -3.043 Highly Destabilizing 0.972 D 0.626 neutral None None None None N
V/W 0.9831 likely_pathogenic 0.9797 pathogenic -2.148 Highly Destabilizing 1.0 D 0.844 deleterious None None None None N
V/Y 0.9609 likely_pathogenic 0.9518 pathogenic -1.876 Destabilizing 0.999 D 0.753 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.