Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19165 | 57718;57719;57720 | chr2:178597589;178597588;178597587 | chr2:179462316;179462315;179462314 |
| N2AB | 17524 | 52795;52796;52797 | chr2:178597589;178597588;178597587 | chr2:179462316;179462315;179462314 |
| N2A | 16597 | 50014;50015;50016 | chr2:178597589;178597588;178597587 | chr2:179462316;179462315;179462314 |
| N2B | 10100 | 30523;30524;30525 | chr2:178597589;178597588;178597587 | chr2:179462316;179462315;179462314 |
| Novex-1 | 10225 | 30898;30899;30900 | chr2:178597589;178597588;178597587 | chr2:179462316;179462315;179462314 |
| Novex-2 | 10292 | 31099;31100;31101 | chr2:178597589;178597588;178597587 | chr2:179462316;179462315;179462314 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | None | None | 1.0 | D | 0.807 | 0.78 | 0.773638986022 | gnomAD-4.0.0 | 1.59354E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43575E-05 | 0 |
| A/T | None | None | 1.0 | D | 0.712 | 0.64 | 0.654251013966 | gnomAD-4.0.0 | 6.8461E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99696E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6316 | likely_pathogenic | 0.6665 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | I |
| A/D | 0.9973 | likely_pathogenic | 0.9972 | pathogenic | -2.001 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.613694675 | None | None | I |
| A/E | 0.99 | likely_pathogenic | 0.9892 | pathogenic | -1.972 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| A/F | 0.9336 | likely_pathogenic | 0.9419 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| A/G | 0.3727 | ambiguous | 0.4186 | ambiguous | -1.432 | Destabilizing | 1.0 | D | 0.53 | neutral | D | 0.597039541 | None | None | I |
| A/H | 0.9953 | likely_pathogenic | 0.9953 | pathogenic | -1.758 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| A/I | 0.5526 | ambiguous | 0.6308 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| A/K | 0.9973 | likely_pathogenic | 0.9974 | pathogenic | -1.518 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| A/L | 0.4037 | ambiguous | 0.467 | ambiguous | -0.343 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| A/M | 0.7267 | likely_pathogenic | 0.7779 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| A/N | 0.9911 | likely_pathogenic | 0.9917 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| A/P | 0.9888 | likely_pathogenic | 0.9899 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.61349287 | None | None | I |
| A/Q | 0.9802 | likely_pathogenic | 0.9794 | pathogenic | -1.431 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| A/R | 0.9908 | likely_pathogenic | 0.9905 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| A/S | 0.4742 | ambiguous | 0.502 | ambiguous | -1.665 | Destabilizing | 1.0 | D | 0.543 | neutral | D | 0.58755115 | None | None | I |
| A/T | 0.5495 | ambiguous | 0.6086 | pathogenic | -1.548 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | D | 0.612887458 | None | None | I |
| A/V | 0.2652 | likely_benign | 0.337 | benign | -0.557 | Destabilizing | 1.0 | D | 0.606 | neutral | D | 0.524947067 | None | None | I |
| A/W | 0.9962 | likely_pathogenic | 0.9966 | pathogenic | -1.51 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| A/Y | 0.9843 | likely_pathogenic | 0.9861 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
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.