Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34399 | 103420;103421;103422 | chr2:178533420;178533419;178533418 | chr2:179398147;179398146;179398145 |
| N2AB | 32758 | 98497;98498;98499 | chr2:178533420;178533419;178533418 | chr2:179398147;179398146;179398145 |
| N2A | 31831 | 95716;95717;95718 | chr2:178533420;178533419;178533418 | chr2:179398147;179398146;179398145 |
| N2B | 25334 | 76225;76226;76227 | chr2:178533420;178533419;178533418 | chr2:179398147;179398146;179398145 |
| Novex-1 | 25459 | 76600;76601;76602 | chr2:178533420;178533419;178533418 | chr2:179398147;179398146;179398145 |
| Novex-2 | 25526 | 76801;76802;76803 | chr2:178533420;178533419;178533418 | chr2:179398147;179398146;179398145 |
| 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/H | rs1268716038  |
0.205 | 1.0 | D | 0.554 | 0.804 | 0.558070701127 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| D/H | rs1268716038 |
0.205 | 1.0 | D | 0.554 | 0.804 | 0.558070701127 | gnomAD-4.0.0 | 1.36838E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79884E-06 | 0 | 0 |
| D/N | None | None | 1.0 | N | 0.589 | 0.471 | 0.47409059586 | gnomAD-4.0.0 | 6.84189E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99418E-07 | 0 | 0 |
| D/Y | None | None | 1.0 | D | 0.593 | 0.79 | 0.756753278458 | gnomAD-4.0.0 | 8.89446E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.16924E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8414 | likely_pathogenic | 0.8029 | pathogenic | -0.449 | Destabilizing | 1.0 | D | 0.656 | neutral | D | 0.531688934 | None | None | N |
| D/C | 0.9751 | likely_pathogenic | 0.9689 | pathogenic | -0.159 | Destabilizing | 1.0 | D | 0.632 | neutral | None | None | None | None | N |
| D/E | 0.8235 | likely_pathogenic | 0.791 | pathogenic | -0.261 | Destabilizing | 1.0 | D | 0.442 | neutral | N | 0.493794902 | None | None | N |
| D/F | 0.9892 | likely_pathogenic | 0.985 | pathogenic | -0.082 | Destabilizing | 1.0 | D | 0.604 | neutral | None | None | None | None | N |
| D/G | 0.6124 | likely_pathogenic | 0.5614 | ambiguous | -0.697 | Destabilizing | 1.0 | D | 0.625 | neutral | N | 0.495552421 | None | None | N |
| D/H | 0.9477 | likely_pathogenic | 0.9364 | pathogenic | 0.098 | Stabilizing | 1.0 | D | 0.554 | neutral | D | 0.546185564 | None | None | N |
| D/I | 0.9874 | likely_pathogenic | 0.9824 | pathogenic | 0.174 | Stabilizing | 1.0 | D | 0.63 | neutral | None | None | None | None | N |
| D/K | 0.978 | likely_pathogenic | 0.9711 | pathogenic | 0.193 | Stabilizing | 1.0 | D | 0.626 | neutral | None | None | None | None | N |
| D/L | 0.9706 | likely_pathogenic | 0.9632 | pathogenic | 0.174 | Stabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| D/M | 0.9899 | likely_pathogenic | 0.9853 | pathogenic | 0.297 | Stabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | N |
| D/N | 0.2103 | likely_benign | 0.1972 | benign | -0.308 | Destabilizing | 1.0 | D | 0.589 | neutral | N | 0.515554006 | None | None | N |
| D/P | 0.9982 | likely_pathogenic | 0.998 | pathogenic | -0.011 | Destabilizing | 1.0 | D | 0.605 | neutral | None | None | None | None | N |
| D/Q | 0.964 | likely_pathogenic | 0.9535 | pathogenic | -0.22 | Destabilizing | 1.0 | D | 0.606 | neutral | None | None | None | None | N |
| D/R | 0.9741 | likely_pathogenic | 0.9669 | pathogenic | 0.462 | Stabilizing | 1.0 | D | 0.63 | neutral | None | None | None | None | N |
| D/S | 0.633 | likely_pathogenic | 0.5872 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.606 | neutral | None | None | None | None | N |
| D/T | 0.9449 | likely_pathogenic | 0.9279 | pathogenic | -0.223 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| D/V | 0.9571 | likely_pathogenic | 0.9416 | pathogenic | -0.011 | Destabilizing | 1.0 | D | 0.65 | neutral | D | 0.564796798 | None | None | N |
| D/W | 0.9971 | likely_pathogenic | 0.9959 | pathogenic | 0.157 | Stabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| D/Y | 0.9006 | likely_pathogenic | 0.8659 | pathogenic | 0.182 | Stabilizing | 1.0 | D | 0.593 | neutral | D | 0.553440493 | 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.