Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2466 | 7621;7622;7623 | chr2:178773660;178773659;178773658 | chr2:179638387;179638386;179638385 |
| N2AB | 2466 | 7621;7622;7623 | chr2:178773660;178773659;178773658 | chr2:179638387;179638386;179638385 |
| N2A | 2466 | 7621;7622;7623 | chr2:178773660;178773659;178773658 | chr2:179638387;179638386;179638385 |
| N2B | 2420 | 7483;7484;7485 | chr2:178773660;178773659;178773658 | chr2:179638387;179638386;179638385 |
| Novex-1 | 2420 | 7483;7484;7485 | chr2:178773660;178773659;178773658 | chr2:179638387;179638386;179638385 |
| Novex-2 | 2420 | 7483;7484;7485 | chr2:178773660;178773659;178773658 | chr2:179638387;179638386;179638385 |
| Novex-3 | 2466 | 7621;7622;7623 | chr2:178773660;178773659;178773658 | chr2:179638387;179638386;179638385 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | None | None | 0.27 | D | 0.717 | 0.425 | 0.752941661959 | gnomAD-4.0.0 | 6.84111E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99321E-07 | 0 | 0 |
| C/S | None | None | 0.01 | D | 0.568 | 0.367 | 0.613482770441 | gnomAD-4.0.0 | 6.84111E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99321E-07 | 0 | 0 |
| C/Y | None | None | 0.975 | D | 0.799 | 0.549 | 0.779765242688 | gnomAD-4.0.0 | 1.36822E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79864E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.4453 | ambiguous | 0.4289 | ambiguous | -1.743 | Destabilizing | 0.004 | N | 0.351 | neutral | None | None | None | None | N |
| C/D | 0.991 | likely_pathogenic | 0.9902 | pathogenic | -1.792 | Destabilizing | 0.704 | D | 0.752 | deleterious | None | None | None | None | N |
| C/E | 0.9952 | likely_pathogenic | 0.995 | pathogenic | -1.574 | Destabilizing | 0.704 | D | 0.742 | deleterious | None | None | None | None | N |
| C/F | 0.8233 | likely_pathogenic | 0.8226 | pathogenic | -1.063 | Destabilizing | 0.975 | D | 0.796 | deleterious | D | 0.663311555 | None | None | N |
| C/G | 0.2552 | likely_benign | 0.2418 | benign | -2.091 | Highly Destabilizing | 0.27 | N | 0.717 | prob.delet. | D | 0.542183638 | None | None | N |
| C/H | 0.9854 | likely_pathogenic | 0.985 | pathogenic | -2.34 | Highly Destabilizing | 0.981 | D | 0.813 | deleterious | None | None | None | None | N |
| C/I | 0.8242 | likely_pathogenic | 0.8195 | pathogenic | -0.807 | Destabilizing | 0.828 | D | 0.677 | prob.neutral | None | None | None | None | N |
| C/K | 0.9973 | likely_pathogenic | 0.9974 | pathogenic | -1.572 | Destabilizing | 0.704 | D | 0.736 | prob.delet. | None | None | None | None | N |
| C/L | 0.8222 | likely_pathogenic | 0.8153 | pathogenic | -0.807 | Destabilizing | 0.495 | N | 0.661 | neutral | None | None | None | None | N |
| C/M | 0.8687 | likely_pathogenic | 0.8678 | pathogenic | -0.083 | Destabilizing | 0.981 | D | 0.757 | deleterious | None | None | None | None | N |
| C/N | 0.9387 | likely_pathogenic | 0.934 | pathogenic | -2.06 | Highly Destabilizing | 0.704 | D | 0.777 | deleterious | None | None | None | None | N |
| C/P | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -1.097 | Destabilizing | 0.944 | D | 0.773 | deleterious | None | None | None | None | N |
| C/Q | 0.9864 | likely_pathogenic | 0.9863 | pathogenic | -1.644 | Destabilizing | 0.944 | D | 0.795 | deleterious | None | None | None | None | N |
| C/R | 0.9834 | likely_pathogenic | 0.9841 | pathogenic | -1.827 | Destabilizing | 0.863 | D | 0.785 | deleterious | D | 0.66441294 | None | None | N |
| C/S | 0.4299 | ambiguous | 0.3981 | ambiguous | -2.377 | Highly Destabilizing | 0.01 | N | 0.568 | neutral | D | 0.560267999 | None | None | N |
| C/T | 0.5851 | likely_pathogenic | 0.5569 | ambiguous | -1.986 | Destabilizing | 0.329 | N | 0.679 | prob.neutral | None | None | None | None | N |
| C/V | 0.6267 | likely_pathogenic | 0.6185 | pathogenic | -1.097 | Destabilizing | 0.495 | N | 0.675 | neutral | None | None | None | None | N |
| C/W | 0.9755 | likely_pathogenic | 0.9755 | pathogenic | -1.485 | Destabilizing | 0.993 | D | 0.799 | deleterious | D | 0.66441294 | None | None | N |
| C/Y | 0.917 | likely_pathogenic | 0.9166 | pathogenic | -1.293 | Destabilizing | 0.975 | D | 0.799 | deleterious | D | 0.663311555 | 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.