Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5766 | 17521;17522;17523 | chr2:178731470;178731469;178731468 | chr2:179596197;179596196;179596195 |
| N2AB | 5449 | 16570;16571;16572 | chr2:178731470;178731469;178731468 | chr2:179596197;179596196;179596195 |
| N2A | 4522 | 13789;13790;13791 | chr2:178731470;178731469;178731468 | chr2:179596197;179596196;179596195 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | None | None | 1.0 | N | 0.423 | 0.268 | 0.201204373187 | gnomAD-4.0.0 | 6.84237E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99467E-07 | 0 | 0 |
| D/G | rs1477878584  |
-0.474 | 1.0 | N | 0.687 | 0.511 | 0.208000267992 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| D/G | rs1477878584 |
-0.474 | 1.0 | N | 0.687 | 0.511 | 0.208000267992 | gnomAD-4.0.0 | 1.59145E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| D/N | None | None | 1.0 | N | 0.633 | 0.318 | 0.199424873507 | gnomAD-4.0.0 | 1.59148E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8583E-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 | 0.4213 | ambiguous | 0.3919 | ambiguous | -0.412 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.488856566 | None | None | N |
| D/C | 0.8808 | likely_pathogenic | 0.8294 | pathogenic | 0.009 | Stabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | N |
| D/E | 0.2858 | likely_benign | 0.2796 | benign | -0.316 | Destabilizing | 1.0 | D | 0.423 | neutral | N | 0.462394519 | None | None | N |
| D/F | 0.8312 | likely_pathogenic | 0.8144 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| D/G | 0.1781 | likely_benign | 0.1578 | benign | -0.646 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.498327242 | None | None | N |
| D/H | 0.6554 | likely_pathogenic | 0.6031 | pathogenic | -0.192 | Destabilizing | 1.0 | D | 0.611 | neutral | N | 0.500719851 | None | None | N |
| D/I | 0.786 | likely_pathogenic | 0.7695 | pathogenic | 0.169 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| D/K | 0.7625 | likely_pathogenic | 0.7192 | pathogenic | 0.22 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| D/L | 0.7348 | likely_pathogenic | 0.7184 | pathogenic | 0.169 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| D/M | 0.8751 | likely_pathogenic | 0.8603 | pathogenic | 0.404 | Stabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| D/N | 0.1588 | likely_benign | 0.1415 | benign | -0.157 | Destabilizing | 1.0 | D | 0.633 | neutral | N | 0.471041853 | None | None | N |
| D/P | 0.9606 | likely_pathogenic | 0.9545 | pathogenic | -0.002 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| D/Q | 0.6766 | likely_pathogenic | 0.6299 | pathogenic | -0.093 | Destabilizing | 1.0 | D | 0.642 | neutral | None | None | None | None | N |
| D/R | 0.7845 | likely_pathogenic | 0.7373 | pathogenic | 0.381 | Stabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| D/S | 0.2867 | likely_benign | 0.2602 | benign | -0.281 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | N |
| D/T | 0.6584 | likely_pathogenic | 0.6321 | pathogenic | -0.091 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| D/V | 0.5675 | likely_pathogenic | 0.5463 | ambiguous | -0.002 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.50097334 | None | None | N |
| D/W | 0.9651 | likely_pathogenic | 0.9564 | pathogenic | -0.058 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| D/Y | 0.4719 | ambiguous | 0.4327 | ambiguous | 0.011 | Stabilizing | 1.0 | D | 0.654 | neutral | N | 0.50097334 | 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.