Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24098 | 72517;72518;72519 | chr2:178573840;178573839;178573838 | chr2:179438567;179438566;179438565 |
| N2AB | 22457 | 67594;67595;67596 | chr2:178573840;178573839;178573838 | chr2:179438567;179438566;179438565 |
| N2A | 21530 | 64813;64814;64815 | chr2:178573840;178573839;178573838 | chr2:179438567;179438566;179438565 |
| N2B | 15033 | 45322;45323;45324 | chr2:178573840;178573839;178573838 | chr2:179438567;179438566;179438565 |
| Novex-1 | 15158 | 45697;45698;45699 | chr2:178573840;178573839;178573838 | chr2:179438567;179438566;179438565 |
| Novex-2 | 15225 | 45898;45899;45900 | chr2:178573840;178573839;178573838 | chr2:179438567;179438566;179438565 |
| Novex-3 | None | None | chr2:None | chr2:None |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 1.0 | D | 0.773 | 0.697 | 0.531922418639 | gnomAD-4.0.0 | 6.85085E-07 | None | None | None | None | N | None | 2.99527E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1223488686  |
-0.902 | 1.0 | D | 0.831 | 0.717 | 0.629843413301 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1223488686 |
-0.902 | 1.0 | D | 0.831 | 0.717 | 0.629843413301 | gnomAD-4.0.0 | 2.05526E-06 | None | None | None | None | N | None | 0 | 2.24065E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 2.32293E-05 | 0 |
| G/S | None | None | 1.0 | D | 0.841 | 0.717 | 0.558889990735 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.477 | ambiguous | 0.5516 | ambiguous | -0.749 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.600007679 | None | None | N |
| G/C | 0.8019 | likely_pathogenic | 0.8441 | pathogenic | -0.956 | Destabilizing | 1.0 | D | 0.752 | deleterious | D | 0.662267089 | None | None | N |
| G/D | 0.9132 | likely_pathogenic | 0.9409 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.636325369 | None | None | N |
| G/E | 0.9524 | likely_pathogenic | 0.9622 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/F | 0.9795 | likely_pathogenic | 0.9839 | pathogenic | -1.181 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/H | 0.973 | likely_pathogenic | 0.98 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/I | 0.9762 | likely_pathogenic | 0.9828 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| G/K | 0.9654 | likely_pathogenic | 0.9725 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/L | 0.9625 | likely_pathogenic | 0.9731 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/M | 0.972 | likely_pathogenic | 0.9823 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/N | 0.9365 | likely_pathogenic | 0.9595 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/P | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| G/Q | 0.9381 | likely_pathogenic | 0.9517 | pathogenic | -1.087 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/R | 0.9095 | likely_pathogenic | 0.9224 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.662065285 | None | None | N |
| G/S | 0.4763 | ambiguous | 0.5583 | ambiguous | -1.156 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.636123565 | None | None | N |
| G/T | 0.8794 | likely_pathogenic | 0.9101 | pathogenic | -1.143 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| G/V | 0.9404 | likely_pathogenic | 0.9538 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.662267089 | None | None | N |
| G/W | 0.9781 | likely_pathogenic | 0.9833 | pathogenic | -1.514 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| G/Y | 0.9778 | likely_pathogenic | 0.984 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.757 | 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.