Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31123 | 93592;93593;93594 | chr2:178548259;178548258;178548257 | chr2:179412986;179412985;179412984 |
| N2AB | 29482 | 88669;88670;88671 | chr2:178548259;178548258;178548257 | chr2:179412986;179412985;179412984 |
| N2A | 28555 | 85888;85889;85890 | chr2:178548259;178548258;178548257 | chr2:179412986;179412985;179412984 |
| N2B | 22058 | 66397;66398;66399 | chr2:178548259;178548258;178548257 | chr2:179412986;179412985;179412984 |
| Novex-1 | 22183 | 66772;66773;66774 | chr2:178548259;178548258;178548257 | chr2:179412986;179412985;179412984 |
| Novex-2 | 22250 | 66973;66974;66975 | chr2:178548259;178548258;178548257 | chr2:179412986;179412985;179412984 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs202096200  |
-0.212 | 0.001 | N | 0.142 | 0.056 | 0.0666544352282 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| V/I | rs202096200 |
-0.212 | 0.001 | N | 0.142 | 0.056 | 0.0666544352282 | gnomAD-4.0.0 | 4.78926E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29606E-06 | 0 | 0 |
| V/L | rs202096200 |
-0.242 | 0.034 | N | 0.287 | 0.05 | None | gnomAD-2.1.1 | 1.0364E-04 | None | None | None | None | N | None | 1.1577E-03 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.40528E-04 |
| V/L | rs202096200 |
-0.242 | 0.034 | N | 0.287 | 0.05 | None | gnomAD-3.1.2 | 3.87892E-04 | None | None | None | None | N | None | 1.39995E-03 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs202096200 |
-0.242 | 0.034 | N | 0.287 | 0.05 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 1.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/L | rs202096200 |
-0.242 | 0.034 | N | 0.287 | 0.05 | None | gnomAD-4.0.0 | 7.62164E-05 | None | None | None | None | N | None | 1.47953E-03 | 5.00033E-05 | None | 0 | 0 | None | 0 | 0 | 8.47597E-07 | 0 | 1.28033E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1585 | likely_benign | 0.1507 | benign | -0.569 | Destabilizing | 0.334 | N | 0.435 | neutral | N | 0.458643851 | None | None | N |
| V/C | 0.7416 | likely_pathogenic | 0.7233 | pathogenic | -0.681 | Destabilizing | 0.982 | D | 0.662 | neutral | None | None | None | None | N |
| V/D | 0.5112 | ambiguous | 0.4828 | ambiguous | -0.362 | Destabilizing | 0.781 | D | 0.758 | deleterious | N | 0.453083316 | None | None | N |
| V/E | 0.3664 | ambiguous | 0.3493 | ambiguous | -0.47 | Destabilizing | 0.826 | D | 0.723 | prob.delet. | None | None | None | None | N |
| V/F | 0.2106 | likely_benign | 0.201 | benign | -0.728 | Destabilizing | 0.638 | D | 0.713 | prob.delet. | N | 0.505917723 | None | None | N |
| V/G | 0.2768 | likely_benign | 0.2719 | benign | -0.714 | Destabilizing | 0.781 | D | 0.749 | deleterious | N | 0.473786662 | None | None | N |
| V/H | 0.616 | likely_pathogenic | 0.6088 | pathogenic | -0.231 | Destabilizing | 0.982 | D | 0.721 | prob.delet. | None | None | None | None | N |
| V/I | 0.0645 | likely_benign | 0.0677 | benign | -0.334 | Destabilizing | 0.001 | N | 0.142 | neutral | N | 0.42651279 | None | None | N |
| V/K | 0.382 | ambiguous | 0.3535 | ambiguous | -0.544 | Destabilizing | 0.826 | D | 0.723 | prob.delet. | None | None | None | None | N |
| V/L | 0.1507 | likely_benign | 0.1505 | benign | -0.334 | Destabilizing | 0.034 | N | 0.287 | neutral | N | 0.428032943 | None | None | N |
| V/M | 0.1168 | likely_benign | 0.1218 | benign | -0.378 | Destabilizing | 0.7 | D | 0.593 | neutral | None | None | None | None | N |
| V/N | 0.3471 | ambiguous | 0.3424 | ambiguous | -0.3 | Destabilizing | 0.935 | D | 0.745 | deleterious | None | None | None | None | N |
| V/P | 0.8088 | likely_pathogenic | 0.7518 | pathogenic | -0.377 | Destabilizing | 0.935 | D | 0.734 | prob.delet. | None | None | None | None | N |
| V/Q | 0.3458 | ambiguous | 0.3321 | benign | -0.547 | Destabilizing | 0.935 | D | 0.716 | prob.delet. | None | None | None | None | N |
| V/R | 0.3351 | likely_benign | 0.298 | benign | 0.007 | Stabilizing | 0.826 | D | 0.739 | prob.delet. | None | None | None | None | N |
| V/S | 0.2216 | likely_benign | 0.2148 | benign | -0.674 | Destabilizing | 0.826 | D | 0.717 | prob.delet. | None | None | None | None | N |
| V/T | 0.121 | likely_benign | 0.1165 | benign | -0.681 | Destabilizing | 0.399 | N | 0.533 | neutral | None | None | None | None | N |
| V/W | 0.8129 | likely_pathogenic | 0.7873 | pathogenic | -0.803 | Destabilizing | 0.982 | D | 0.705 | prob.neutral | None | None | None | None | N |
| V/Y | 0.6066 | likely_pathogenic | 0.5762 | pathogenic | -0.513 | Destabilizing | 0.826 | D | 0.712 | prob.delet. | 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.