Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29705 | 89338;89339;89340 | chr2:178553998;178553997;178553996 | chr2:179418725;179418724;179418723 |
| N2AB | 28064 | 84415;84416;84417 | chr2:178553998;178553997;178553996 | chr2:179418725;179418724;179418723 |
| N2A | 27137 | 81634;81635;81636 | chr2:178553998;178553997;178553996 | chr2:179418725;179418724;179418723 |
| N2B | 20640 | 62143;62144;62145 | chr2:178553998;178553997;178553996 | chr2:179418725;179418724;179418723 |
| Novex-1 | 20765 | 62518;62519;62520 | chr2:178553998;178553997;178553996 | chr2:179418725;179418724;179418723 |
| Novex-2 | 20832 | 62719;62720;62721 | chr2:178553998;178553997;178553996 | chr2:179418725;179418724;179418723 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | None | None | 0.003 | D | 0.56 | 0.149 | 0.166414681773 | gnomAD-4.0.0 | 1.23202E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.52909E-05 | 0 | 1.65667E-05 |
| Q/R | rs752538734  |
-1.21 | 0.324 | N | 0.722 | 0.183 | 0.204665344411 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| Q/R | rs752538734 |
-1.21 | 0.324 | N | 0.722 | 0.183 | 0.204665344411 | gnomAD-4.0.0 | 1.09514E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.43915E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.4989 | ambiguous | 0.4944 | ambiguous | -1.351 | Destabilizing | 0.388 | N | 0.657 | neutral | None | None | None | None | N |
| Q/C | 0.6993 | likely_pathogenic | 0.7052 | pathogenic | -0.467 | Destabilizing | 0.981 | D | 0.733 | prob.delet. | None | None | None | None | N |
| Q/D | 0.9509 | likely_pathogenic | 0.9529 | pathogenic | -2.246 | Highly Destabilizing | 0.388 | N | 0.695 | prob.neutral | None | None | None | None | N |
| Q/E | 0.1498 | likely_benign | 0.1481 | benign | -1.89 | Destabilizing | 0.09 | N | 0.703 | prob.neutral | N | 0.368925924 | None | None | N |
| Q/F | 0.8958 | likely_pathogenic | 0.9026 | pathogenic | -0.776 | Destabilizing | 0.69 | D | 0.691 | prob.neutral | None | None | None | None | N |
| Q/G | 0.7672 | likely_pathogenic | 0.768 | pathogenic | -1.797 | Destabilizing | 0.388 | N | 0.615 | neutral | None | None | None | None | N |
| Q/H | 0.5302 | ambiguous | 0.5451 | ambiguous | -1.093 | Destabilizing | 0.003 | N | 0.56 | neutral | D | 0.52325269 | None | None | N |
| Q/I | 0.6969 | likely_pathogenic | 0.7151 | pathogenic | -0.083 | Destabilizing | 0.527 | D | 0.668 | neutral | None | None | None | None | N |
| Q/K | 0.5065 | ambiguous | 0.5822 | pathogenic | -0.285 | Destabilizing | 0.324 | N | 0.735 | prob.delet. | N | 0.478499049 | None | None | N |
| Q/L | 0.4216 | ambiguous | 0.4562 | ambiguous | -0.083 | Destabilizing | 0.001 | N | 0.514 | neutral | N | 0.475845532 | None | None | N |
| Q/M | 0.513 | ambiguous | 0.5052 | ambiguous | -0.091 | Destabilizing | 0.69 | D | 0.673 | neutral | None | None | None | None | N |
| Q/N | 0.7807 | likely_pathogenic | 0.7943 | pathogenic | -1.213 | Destabilizing | 0.241 | N | 0.691 | prob.neutral | None | None | None | None | N |
| Q/P | 0.9809 | likely_pathogenic | 0.98 | pathogenic | -0.487 | Destabilizing | 0.773 | D | 0.656 | neutral | N | 0.502021114 | None | None | N |
| Q/R | 0.469 | ambiguous | 0.5254 | ambiguous | -0.571 | Destabilizing | 0.324 | N | 0.722 | prob.delet. | N | 0.479923201 | None | None | N |
| Q/S | 0.5471 | ambiguous | 0.5208 | ambiguous | -1.538 | Destabilizing | 0.388 | N | 0.708 | prob.delet. | None | None | None | None | N |
| Q/T | 0.6184 | likely_pathogenic | 0.6181 | pathogenic | -1.013 | Destabilizing | 0.563 | D | 0.639 | neutral | None | None | None | None | N |
| Q/V | 0.5134 | ambiguous | 0.514 | ambiguous | -0.487 | Destabilizing | 0.241 | N | 0.619 | neutral | None | None | None | None | N |
| Q/W | 0.9164 | likely_pathogenic | 0.925 | pathogenic | -0.862 | Destabilizing | 0.981 | D | 0.697 | prob.neutral | None | None | None | None | N |
| Q/Y | 0.7915 | likely_pathogenic | 0.8178 | pathogenic | -0.456 | Destabilizing | 0.527 | D | 0.643 | 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.