Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1786 | 5581;5582;5583 | chr2:178776508;178776507;178776506 | chr2:179641235;179641234;179641233 |
| N2AB | 1786 | 5581;5582;5583 | chr2:178776508;178776507;178776506 | chr2:179641235;179641234;179641233 |
| N2A | 1786 | 5581;5582;5583 | chr2:178776508;178776507;178776506 | chr2:179641235;179641234;179641233 |
| N2B | 1740 | 5443;5444;5445 | chr2:178776508;178776507;178776506 | chr2:179641235;179641234;179641233 |
| Novex-1 | 1740 | 5443;5444;5445 | chr2:178776508;178776507;178776506 | chr2:179641235;179641234;179641233 |
| Novex-2 | 1740 | 5443;5444;5445 | chr2:178776508;178776507;178776506 | chr2:179641235;179641234;179641233 |
| Novex-3 | 1786 | 5581;5582;5583 | chr2:178776508;178776507;178776506 | chr2:179641235;179641234;179641233 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | None | None | 1.0 | N | 0.612 | 0.287 | 0.299770980665 | gnomAD-4.0.0 | 6.86608E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99327E-07 | 0 | 0 |
| D/N | None | None | 1.0 | D | 0.735 | 0.443 | 0.364141725642 | gnomAD-4.0.0 | 1.37311E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.6829 | likely_pathogenic | 0.6803 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.370171594 | None | None | N |
| D/C | 0.9807 | likely_pathogenic | 0.9785 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| D/E | 0.7122 | likely_pathogenic | 0.7401 | pathogenic | -0.66 | Destabilizing | 1.0 | D | 0.612 | neutral | N | 0.510099179 | None | None | N |
| D/F | 0.9834 | likely_pathogenic | 0.9843 | pathogenic | 0.188 | Stabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| D/G | 0.8235 | likely_pathogenic | 0.8194 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.579104188 | None | None | N |
| D/H | 0.9394 | likely_pathogenic | 0.9317 | pathogenic | -0.199 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.579104188 | None | None | N |
| D/I | 0.9618 | likely_pathogenic | 0.9726 | pathogenic | 0.671 | Stabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| D/K | 0.9788 | likely_pathogenic | 0.978 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| D/L | 0.9581 | likely_pathogenic | 0.9625 | pathogenic | 0.671 | Stabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| D/M | 0.9857 | likely_pathogenic | 0.9878 | pathogenic | 1.149 | Stabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| D/N | 0.5495 | ambiguous | 0.5531 | ambiguous | -1.097 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.545961201 | None | None | N |
| D/P | 0.998 | likely_pathogenic | 0.9975 | pathogenic | 0.319 | Stabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| D/Q | 0.9457 | likely_pathogenic | 0.9471 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| D/R | 0.9775 | likely_pathogenic | 0.974 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| D/S | 0.5216 | ambiguous | 0.508 | ambiguous | -1.456 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| D/T | 0.8435 | likely_pathogenic | 0.8717 | pathogenic | -1.103 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/V | 0.8787 | likely_pathogenic | 0.9078 | pathogenic | 0.319 | Stabilizing | 1.0 | D | 0.893 | deleterious | N | 0.452553603 | None | None | N |
| D/W | 0.9978 | likely_pathogenic | 0.9977 | pathogenic | 0.344 | Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| D/Y | 0.9277 | likely_pathogenic | 0.9262 | pathogenic | 0.424 | Stabilizing | 1.0 | D | 0.859 | deleterious | D | 0.604420064 | 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.