Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30666 | 92221;92222;92223 | chr2:178549726;178549725;178549724 | chr2:179414453;179414452;179414451 |
| N2AB | 29025 | 87298;87299;87300 | chr2:178549726;178549725;178549724 | chr2:179414453;179414452;179414451 |
| N2A | 28098 | 84517;84518;84519 | chr2:178549726;178549725;178549724 | chr2:179414453;179414452;179414451 |
| N2B | 21601 | 65026;65027;65028 | chr2:178549726;178549725;178549724 | chr2:179414453;179414452;179414451 |
| Novex-1 | 21726 | 65401;65402;65403 | chr2:178549726;178549725;178549724 | chr2:179414453;179414452;179414451 |
| Novex-2 | 21793 | 65602;65603;65604 | chr2:178549726;178549725;178549724 | chr2:179414453;179414452;179414451 |
| 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/T | None | None | 0.201 | N | 0.423 | 0.035 | 0.211220785272 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| A/V | None | None | 0.334 | N | 0.403 | 0.293 | 0.425028116352 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5993 | likely_pathogenic | 0.6292 | pathogenic | -0.65 | Destabilizing | 0.947 | D | 0.449 | neutral | None | None | None | None | I |
| A/D | 0.8147 | likely_pathogenic | 0.8698 | pathogenic | -0.42 | Destabilizing | 0.468 | N | 0.551 | neutral | N | 0.488502611 | None | None | I |
| A/E | 0.7548 | likely_pathogenic | 0.8077 | pathogenic | -0.521 | Destabilizing | 0.25 | N | 0.437 | neutral | None | None | None | None | I |
| A/F | 0.5903 | likely_pathogenic | 0.6619 | pathogenic | -0.778 | Destabilizing | 0.826 | D | 0.638 | neutral | None | None | None | None | I |
| A/G | 0.2725 | likely_benign | 0.3143 | benign | -0.531 | Destabilizing | 0.094 | N | 0.463 | neutral | N | 0.480229845 | None | None | I |
| A/H | 0.7411 | likely_pathogenic | 0.7827 | pathogenic | -0.453 | Destabilizing | 0.947 | D | 0.633 | neutral | None | None | None | None | I |
| A/I | 0.4344 | ambiguous | 0.4993 | ambiguous | -0.268 | Destabilizing | 0.7 | D | 0.501 | neutral | None | None | None | None | I |
| A/K | 0.8976 | likely_pathogenic | 0.9164 | pathogenic | -0.704 | Destabilizing | 0.25 | N | 0.434 | neutral | None | None | None | None | I |
| A/L | 0.2672 | likely_benign | 0.3007 | benign | -0.268 | Destabilizing | 0.399 | N | 0.453 | neutral | None | None | None | None | I |
| A/M | 0.3691 | ambiguous | 0.42 | ambiguous | -0.448 | Destabilizing | 0.982 | D | 0.493 | neutral | None | None | None | None | I |
| A/N | 0.4213 | ambiguous | 0.4988 | ambiguous | -0.376 | Destabilizing | 0.539 | D | 0.569 | neutral | None | None | None | None | I |
| A/P | 0.6855 | likely_pathogenic | 0.7412 | pathogenic | -0.279 | Destabilizing | 0.638 | D | 0.505 | neutral | N | 0.499837113 | None | None | I |
| A/Q | 0.589 | likely_pathogenic | 0.6262 | pathogenic | -0.586 | Destabilizing | 0.7 | D | 0.487 | neutral | None | None | None | None | I |
| A/R | 0.8333 | likely_pathogenic | 0.8472 | pathogenic | -0.28 | Destabilizing | 0.7 | D | 0.499 | neutral | None | None | None | None | I |
| A/S | 0.1172 | likely_benign | 0.1315 | benign | -0.631 | Destabilizing | 0.001 | N | 0.306 | neutral | N | 0.428992948 | None | None | I |
| A/T | 0.1367 | likely_benign | 0.155 | benign | -0.644 | Destabilizing | 0.201 | N | 0.423 | neutral | N | 0.454064751 | None | None | I |
| A/V | 0.2141 | likely_benign | 0.256 | benign | -0.279 | Destabilizing | 0.334 | N | 0.403 | neutral | N | 0.474152021 | None | None | I |
| A/W | 0.9199 | likely_pathogenic | 0.9358 | pathogenic | -0.974 | Destabilizing | 0.982 | D | 0.737 | prob.delet. | None | None | None | None | I |
| A/Y | 0.7578 | likely_pathogenic | 0.8049 | pathogenic | -0.607 | Destabilizing | 0.826 | D | 0.629 | neutral | 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.