Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18502 | 55729;55730;55731 | chr2:178601493;178601492;178601491 | chr2:179466220;179466219;179466218 |
| N2AB | 16861 | 50806;50807;50808 | chr2:178601493;178601492;178601491 | chr2:179466220;179466219;179466218 |
| N2A | 15934 | 48025;48026;48027 | chr2:178601493;178601492;178601491 | chr2:179466220;179466219;179466218 |
| N2B | 9437 | 28534;28535;28536 | chr2:178601493;178601492;178601491 | chr2:179466220;179466219;179466218 |
| Novex-1 | 9562 | 28909;28910;28911 | chr2:178601493;178601492;178601491 | chr2:179466220;179466219;179466218 |
| Novex-2 | 9629 | 29110;29111;29112 | chr2:178601493;178601492;178601491 | chr2:179466220;179466219;179466218 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs747559618  |
None | 0.002 | N | 0.295 | 0.065 | 0.378498632473 | gnomAD-4.0.0 | 1.593E-06 | None | None | None | None | N | None | 5.67151E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/T | None | None | 0.012 | N | 0.33 | 0.167 | 0.444305618086 | gnomAD-4.0.0 | 1.59296E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86156E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.3757 | ambiguous | 0.3379 | benign | -1.439 | Destabilizing | None | N | 0.193 | neutral | None | None | None | None | N |
| M/C | 0.7437 | likely_pathogenic | 0.734 | pathogenic | -1.239 | Destabilizing | 0.356 | N | 0.473 | neutral | None | None | None | None | N |
| M/D | 0.8962 | likely_pathogenic | 0.8493 | pathogenic | -0.443 | Destabilizing | 0.136 | N | 0.523 | neutral | None | None | None | None | N |
| M/E | 0.6899 | likely_pathogenic | 0.5968 | pathogenic | -0.384 | Destabilizing | 0.072 | N | 0.444 | neutral | None | None | None | None | N |
| M/F | 0.4623 | ambiguous | 0.4157 | ambiguous | -0.49 | Destabilizing | 0.072 | N | 0.387 | neutral | None | None | None | None | N |
| M/G | 0.6555 | likely_pathogenic | 0.6678 | pathogenic | -1.738 | Destabilizing | 0.016 | N | 0.361 | neutral | None | None | None | None | N |
| M/H | 0.602 | likely_pathogenic | 0.5856 | pathogenic | -0.65 | Destabilizing | 0.628 | D | 0.453 | neutral | None | None | None | None | N |
| M/I | 0.39 | ambiguous | 0.3215 | benign | -0.665 | Destabilizing | 0.002 | N | 0.295 | neutral | N | 0.431745252 | None | None | N |
| M/K | 0.3901 | ambiguous | 0.394 | ambiguous | -0.479 | Destabilizing | 0.024 | N | 0.381 | neutral | N | 0.349705445 | None | None | N |
| M/L | 0.1228 | likely_benign | 0.124 | benign | -0.665 | Destabilizing | None | N | 0.105 | neutral | N | 0.364674898 | None | None | N |
| M/N | 0.4893 | ambiguous | 0.4234 | ambiguous | -0.521 | Destabilizing | 0.136 | N | 0.557 | neutral | None | None | None | None | N |
| M/P | 0.3274 | likely_benign | 0.3193 | benign | -0.898 | Destabilizing | None | N | 0.277 | neutral | None | None | None | None | N |
| M/Q | 0.2963 | likely_benign | 0.2795 | benign | -0.529 | Destabilizing | 0.136 | N | 0.418 | neutral | None | None | None | None | N |
| M/R | 0.4681 | ambiguous | 0.4848 | ambiguous | -0.027 | Destabilizing | 0.106 | N | 0.499 | neutral | N | 0.376449329 | None | None | N |
| M/S | 0.4225 | ambiguous | 0.3719 | ambiguous | -1.078 | Destabilizing | 0.016 | N | 0.353 | neutral | None | None | None | None | N |
| M/T | 0.3658 | ambiguous | 0.308 | benign | -0.9 | Destabilizing | 0.012 | N | 0.33 | neutral | N | 0.383356659 | None | None | N |
| M/V | 0.1535 | likely_benign | 0.1281 | benign | -0.898 | Destabilizing | None | N | 0.125 | neutral | N | 0.39009063 | None | None | N |
| M/W | 0.8175 | likely_pathogenic | 0.7999 | pathogenic | -0.451 | Destabilizing | 0.864 | D | 0.468 | neutral | None | None | None | None | N |
| M/Y | 0.6431 | likely_pathogenic | 0.6169 | pathogenic | -0.437 | Destabilizing | 0.356 | N | 0.54 | neutral | 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.