Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 163 | 712;713;714 | chr2:178800491;178800490;178800489 | chr2:179665218;179665217;179665216 |
| N2AB | 163 | 712;713;714 | chr2:178800491;178800490;178800489 | chr2:179665218;179665217;179665216 |
| N2A | 163 | 712;713;714 | chr2:178800491;178800490;178800489 | chr2:179665218;179665217;179665216 |
| N2B | 163 | 712;713;714 | chr2:178800491;178800490;178800489 | chr2:179665218;179665217;179665216 |
| Novex-1 | 163 | 712;713;714 | chr2:178800491;178800490;178800489 | chr2:179665218;179665217;179665216 |
| Novex-2 | 163 | 712;713;714 | chr2:178800491;178800490;178800489 | chr2:179665218;179665217;179665216 |
| Novex-3 | 163 | 712;713;714 | chr2:178800491;178800490;178800489 | chr2:179665218;179665217;179665216 |
Information
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/S | None | None | 1.0 | D | 0.9 | 0.88 | 0.928496042275 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -0.418(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| I/V | rs2094004196  |
None | 0.987 | D | 0.383 | 0.533 | 0.785477007334 | gnomAD-4.0.0 | 1.36812E-06 | None | None | None | -0.577(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31863E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9835 | likely_pathogenic | 0.9886 | pathogenic | -2.77 | Highly Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | -0.264(TCAP) | N |
| I/C | 0.9975 | likely_pathogenic | 0.9981 | pathogenic | -2.059 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | -1.247(TCAP) | N |
| I/D | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -3.35 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | -0.765(TCAP) | N |
| I/E | 0.9971 | likely_pathogenic | 0.9978 | pathogenic | -3.08 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | -0.936(TCAP) | N |
| I/F | 0.8331 | likely_pathogenic | 0.8842 | pathogenic | -1.65 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.604497207 | None | -1.19(TCAP) | N |
| I/G | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -3.357 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | -0.127(TCAP) | N |
| I/H | 0.9973 | likely_pathogenic | 0.9981 | pathogenic | -2.891 | Highly Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | -0.543(TCAP) | N |
| I/K | 0.9937 | likely_pathogenic | 0.9946 | pathogenic | -2.295 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | -1.184(TCAP) | N |
| I/L | 0.5096 | ambiguous | 0.5831 | pathogenic | -1.044 | Destabilizing | 0.905 | D | 0.409 | neutral | D | 0.546432174 | None | -0.75(TCAP) | N |
| I/M | 0.5983 | likely_pathogenic | 0.6466 | pathogenic | -1.033 | Destabilizing | 0.999 | D | 0.768 | deleterious | D | 0.704180937 | None | -1.162(TCAP) | N |
| I/N | 0.9956 | likely_pathogenic | 0.997 | pathogenic | -2.792 | Highly Destabilizing | 1.0 | D | 0.922 | deleterious | D | 0.820101763 | None | -0.682(TCAP) | N |
| I/P | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -1.604 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | -0.577(TCAP) | N |
| I/Q | 0.9945 | likely_pathogenic | 0.9962 | pathogenic | -2.572 | Highly Destabilizing | 1.0 | D | 0.93 | deleterious | None | None | None | -0.841(TCAP) | N |
| I/R | 0.9903 | likely_pathogenic | 0.9922 | pathogenic | -2.057 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | -1.206(TCAP) | N |
| I/S | 0.9931 | likely_pathogenic | 0.9952 | pathogenic | -3.451 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.820101763 | None | -0.418(TCAP) | N |
| I/T | 0.9867 | likely_pathogenic | 0.9905 | pathogenic | -3.028 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.786502932 | None | -0.62(TCAP) | N |
| I/V | 0.437 | ambiguous | 0.5 | ambiguous | -1.604 | Destabilizing | 0.987 | D | 0.383 | neutral | D | 0.576642056 | None | -0.577(TCAP) | N |
| I/W | 0.9968 | likely_pathogenic | 0.9975 | pathogenic | -2.121 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | -1.787(TCAP) | N |
| I/Y | 0.9888 | likely_pathogenic | 0.9922 | pathogenic | -1.837 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | -1.27(TCAP) | 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.