Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1127 | 3604;3605;3606 | chr2:178782213;178782212;178781263 | chr2:179646940;179646939;179645990 |
| N2AB | 1127 | 3604;3605;3606 | chr2:178782213;178782212;178781263 | chr2:179646940;179646939;179645990 |
| N2A | 1127 | 3604;3605;3606 | chr2:178782213;178782212;178781263 | chr2:179646940;179646939;179645990 |
| N2B | 1081 | 3466;3467;3468 | chr2:178782213;178782212;178781263 | chr2:179646940;179646939;179645990 |
| Novex-1 | 1081 | 3466;3467;3468 | chr2:178782213;178782212;178781263 | chr2:179646940;179646939;179645990 |
| Novex-2 | 1081 | 3466;3467;3468 | chr2:178782213;178782212;178781263 | chr2:179646940;179646939;179645990 |
| Novex-3 | 1127 | 3604;3605;3606 | chr2:178782213;178782212;178781263 | chr2:179646940;179646939;179645990 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | None | None | 1.0 | N | 0.716 | 0.601 | 0.53837629882 | gnomAD-4.0.0 | 5.47276E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19463E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9927 | likely_pathogenic | 0.9912 | pathogenic | -1.427 | Destabilizing | 0.999 | D | 0.527 | neutral | None | None | None | None | N |
| R/C | 0.9314 | likely_pathogenic | 0.937 | pathogenic | -1.298 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| R/D | 0.9966 | likely_pathogenic | 0.9953 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| R/E | 0.9813 | likely_pathogenic | 0.9782 | pathogenic | -0.196 | Destabilizing | 0.999 | D | 0.572 | neutral | None | None | None | None | N |
| R/F | 0.9959 | likely_pathogenic | 0.9944 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| R/G | 0.9816 | likely_pathogenic | 0.9789 | pathogenic | -1.786 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | N | 0.452201526 | None | None | N |
| R/H | 0.7804 | likely_pathogenic | 0.7688 | pathogenic | -1.82 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| R/I | 0.9812 | likely_pathogenic | 0.9771 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.499285025 | None | None | N |
| R/K | 0.7568 | likely_pathogenic | 0.7314 | pathogenic | -0.869 | Destabilizing | 0.997 | D | 0.447 | neutral | N | 0.421443525 | None | None | N |
| R/L | 0.9555 | likely_pathogenic | 0.9432 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| R/M | 0.9914 | likely_pathogenic | 0.9889 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| R/N | 0.9923 | likely_pathogenic | 0.99 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| R/P | 0.9925 | likely_pathogenic | 0.9931 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| R/Q | 0.7848 | likely_pathogenic | 0.7745 | pathogenic | -0.803 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| R/S | 0.9927 | likely_pathogenic | 0.9908 | pathogenic | -1.705 | Destabilizing | 1.0 | D | 0.746 | deleterious | N | 0.465175944 | None | None | N |
| R/T | 0.9896 | likely_pathogenic | 0.9867 | pathogenic | -1.279 | Destabilizing | 1.0 | D | 0.748 | deleterious | N | 0.468268641 | None | None | N |
| R/V | 0.9879 | likely_pathogenic | 0.9849 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| R/W | 0.9331 | likely_pathogenic | 0.9278 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| R/Y | 0.9835 | likely_pathogenic | 0.9785 | pathogenic | -0.266 | Destabilizing | 1.0 | D | 0.745 | 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.