Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 87 | 484;485;486 | chr2:178802174;178802173;178802172 | chr2:179666901;179666900;179666899 |
| N2AB | 87 | 484;485;486 | chr2:178802174;178802173;178802172 | chr2:179666901;179666900;179666899 |
| N2A | 87 | 484;485;486 | chr2:178802174;178802173;178802172 | chr2:179666901;179666900;179666899 |
| N2B | 87 | 484;485;486 | chr2:178802174;178802173;178802172 | chr2:179666901;179666900;179666899 |
| Novex-1 | 87 | 484;485;486 | chr2:178802174;178802173;178802172 | chr2:179666901;179666900;179666899 |
| Novex-2 | 87 | 484;485;486 | chr2:178802174;178802173;178802172 | chr2:179666901;179666900;179666899 |
| Novex-3 | 87 | 484;485;486 | chr2:178802174;178802173;178802172 | chr2:179666901;179666900;179666899 |
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/R | rs756996890  |
0.001 | 1.0 | D | 0.865 | 0.819 | 0.873851217738 | gnomAD-2.1.1 | 7.95E-06 | None | None | None | -2.239(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.79E-06 | 0 |
| G/R | rs756996890 |
0.001 | 1.0 | D | 0.865 | 0.819 | 0.873851217738 | gnomAD-4.0.0 | 1.36819E-06 | None | None | None | -2.239(TCAP) | N | None | 0 | 4.47187E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.837 | 0.831 | 0.931201369921 | gnomAD-4.0.0 | 1.36819E-06 | None | None | None | -2.076(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79869E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7427 | likely_pathogenic | 0.6962 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.761989088 | None | -1.741(TCAP) | N |
| G/C | 0.9394 | likely_pathogenic | 0.9328 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | -0.221(TCAP) | N |
| G/D | 0.8985 | likely_pathogenic | 0.8815 | pathogenic | -0.663 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | -1.666(TCAP) | N |
| G/E | 0.9058 | likely_pathogenic | 0.878 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.736338791 | None | -1.817(TCAP) | N |
| G/F | 0.9826 | likely_pathogenic | 0.9778 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | -1.621(TCAP) | N |
| G/H | 0.9607 | likely_pathogenic | 0.949 | pathogenic | -0.521 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | -1.503(TCAP) | N |
| G/I | 0.9724 | likely_pathogenic | 0.9619 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | -2.25(TCAP) | N |
| G/K | 0.9467 | likely_pathogenic | 0.9255 | pathogenic | -0.742 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | -2.133(TCAP) | N |
| G/L | 0.9658 | likely_pathogenic | 0.9538 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | -2.25(TCAP) | N |
| G/M | 0.9845 | likely_pathogenic | 0.9765 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | -0.795(TCAP) | N |
| G/N | 0.9231 | likely_pathogenic | 0.8895 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | -0.776(TCAP) | N |
| G/P | 0.9959 | likely_pathogenic | 0.9957 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | -2.076(TCAP) | N |
| G/Q | 0.9053 | likely_pathogenic | 0.87 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | -1.055(TCAP) | N |
| G/R | 0.8602 | likely_pathogenic | 0.8233 | pathogenic | -0.27 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.818274347 | None | -2.239(TCAP) | N |
| G/S | 0.51 | ambiguous | 0.4605 | ambiguous | -0.542 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | -0.83(TCAP) | N |
| G/T | 0.8972 | likely_pathogenic | 0.8665 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | -1.02(TCAP) | N |
| G/V | 0.9411 | likely_pathogenic | 0.9224 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.817260263 | None | -2.076(TCAP) | N |
| G/W | 0.9585 | likely_pathogenic | 0.9548 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | -1.63(TCAP) | N |
| G/Y | 0.9743 | likely_pathogenic | 0.9664 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | -1.35(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.