Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13865 | 41818;41819;41820 | chr2:178635978;178635977;178635976 | chr2:179500705;179500704;179500703 |
| N2AB | 12224 | 36895;36896;36897 | chr2:178635978;178635977;178635976 | chr2:179500705;179500704;179500703 |
| N2A | 11297 | 34114;34115;34116 | chr2:178635978;178635977;178635976 | chr2:179500705;179500704;179500703 |
| N2B | 4800 | 14623;14624;14625 | chr2:178635978;178635977;178635976 | chr2:179500705;179500704;179500703 |
| Novex-1 | 4925 | 14998;14999;15000 | chr2:178635978;178635977;178635976 | chr2:179500705;179500704;179500703 |
| Novex-2 | 4992 | 15199;15200;15201 | chr2:178635978;178635977;178635976 | chr2:179500705;179500704;179500703 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | None | None | 0.27 | N | 0.441 | 0.145 | 0.533808175679 | gnomAD-4.0.0 | 6.90824E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.06498E-07 | 0 | 0 |
| C/S | None | None | 0.01 | N | 0.337 | 0.123 | 0.384252928164 | gnomAD-4.0.0 | 1.63059E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.09617E-05 |
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 | 0.3005 | likely_benign | 0.3528 | ambiguous | -1.109 | Destabilizing | 0.176 | N | 0.289 | neutral | None | None | None | None | N |
| C/D | 0.4763 | ambiguous | 0.5884 | pathogenic | 0.005 | Stabilizing | 0.329 | N | 0.449 | neutral | None | None | None | None | N |
| C/E | 0.594 | likely_pathogenic | 0.7076 | pathogenic | 0.044 | Stabilizing | 0.704 | D | 0.544 | neutral | None | None | None | None | N |
| C/F | 0.1888 | likely_benign | 0.221 | benign | -0.887 | Destabilizing | 0.975 | D | 0.641 | neutral | N | 0.345880917 | None | None | N |
| C/G | 0.2207 | likely_benign | 0.2553 | benign | -1.343 | Destabilizing | 0.27 | N | 0.441 | neutral | N | 0.341722756 | None | None | N |
| C/H | 0.3003 | likely_benign | 0.3868 | ambiguous | -1.592 | Destabilizing | 0.944 | D | 0.655 | prob.neutral | None | None | None | None | N |
| C/I | 0.3378 | likely_benign | 0.4043 | ambiguous | -0.552 | Destabilizing | 0.828 | D | 0.575 | neutral | None | None | None | None | N |
| C/K | 0.5137 | ambiguous | 0.6349 | pathogenic | -0.273 | Destabilizing | 0.704 | D | 0.487 | neutral | None | None | None | None | N |
| C/L | 0.363 | ambiguous | 0.4034 | ambiguous | -0.552 | Destabilizing | 0.495 | N | 0.472 | neutral | None | None | None | None | N |
| C/M | 0.4716 | ambiguous | 0.4888 | ambiguous | -0.076 | Destabilizing | 0.981 | D | 0.552 | neutral | None | None | None | None | N |
| C/N | 0.2625 | likely_benign | 0.3052 | benign | -0.122 | Destabilizing | 0.001 | N | 0.505 | neutral | None | None | None | None | N |
| C/P | 0.858 | likely_pathogenic | 0.8963 | pathogenic | -0.711 | Destabilizing | 0.944 | D | 0.667 | prob.neutral | None | None | None | None | N |
| C/Q | 0.3872 | ambiguous | 0.4796 | ambiguous | -0.194 | Destabilizing | 0.944 | D | 0.671 | prob.neutral | None | None | None | None | N |
| C/R | 0.218 | likely_benign | 0.3161 | benign | -0.172 | Destabilizing | 0.642 | D | 0.623 | neutral | N | 0.347052349 | None | None | N |
| C/S | 0.1879 | likely_benign | 0.2156 | benign | -0.59 | Destabilizing | 0.01 | N | 0.337 | neutral | N | 0.344947055 | None | None | N |
| C/T | 0.231 | likely_benign | 0.2571 | benign | -0.391 | Destabilizing | 0.329 | N | 0.417 | neutral | None | None | None | None | N |
| C/V | 0.2512 | likely_benign | 0.2734 | benign | -0.711 | Destabilizing | 0.704 | D | 0.571 | neutral | None | None | None | None | N |
| C/W | 0.4562 | ambiguous | 0.5613 | ambiguous | -0.885 | Destabilizing | 0.997 | D | 0.665 | prob.neutral | N | 0.342064434 | None | None | N |
| C/Y | 0.2529 | likely_benign | 0.3272 | benign | -0.758 | Destabilizing | 0.975 | D | 0.641 | neutral | N | 0.340363105 | 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.