Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22609 | 68050;68051;68052 | chr2:178579205;178579204;178579203 | chr2:179443932;179443931;179443930 |
| N2AB | 20968 | 63127;63128;63129 | chr2:178579205;178579204;178579203 | chr2:179443932;179443931;179443930 |
| N2A | 20041 | 60346;60347;60348 | chr2:178579205;178579204;178579203 | chr2:179443932;179443931;179443930 |
| N2B | 13544 | 40855;40856;40857 | chr2:178579205;178579204;178579203 | chr2:179443932;179443931;179443930 |
| Novex-1 | 13669 | 41230;41231;41232 | chr2:178579205;178579204;178579203 | chr2:179443932;179443931;179443930 |
| Novex-2 | 13736 | 41431;41432;41433 | chr2:178579205;178579204;178579203 | chr2:179443932;179443931;179443930 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs751153093  |
-0.927 | 0.033 | N | 0.47 | 0.047 | 0.37762505005 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.8E-05 | None | 0 | 0 | 0 |
| I/M | rs751153093 |
-0.927 | 0.033 | N | 0.47 | 0.047 | 0.37762505005 | gnomAD-4.0.0 | 8.89618E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49803E-06 | 9.27601E-05 | 0 |
| I/R | None | None | 0.033 | N | 0.538 | 0.184 | 0.654130084499 | gnomAD-4.0.0 | 6.8433E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99617E-07 | 0 | 0 |
| I/T | rs778337241 |
-1.912 | None | N | 0.259 | 0.108 | 0.632468194898 | gnomAD-2.1.1 | 2.41E-05 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 1.30727E-04 | None | 0 | 0 | 1.65563E-04 |
| I/T | rs778337241 |
-1.912 | None | N | 0.259 | 0.108 | 0.632468194898 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs778337241 |
-1.912 | None | N | 0.259 | 0.108 | 0.632468194898 | gnomAD-4.0.0 | 1.61156E-05 | None | None | None | None | N | None | 1.33551E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69555E-06 | 2.41572E-04 | 1.60149E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1937 | likely_benign | 0.1756 | benign | -2.375 | Highly Destabilizing | None | N | 0.253 | neutral | None | None | None | None | N |
| I/C | 0.5734 | likely_pathogenic | 0.5406 | ambiguous | -1.459 | Destabilizing | 0.245 | N | 0.498 | neutral | None | None | None | None | N |
| I/D | 0.7083 | likely_pathogenic | 0.6318 | pathogenic | -2.613 | Highly Destabilizing | 0.044 | N | 0.528 | neutral | None | None | None | None | N |
| I/E | 0.5544 | ambiguous | 0.4943 | ambiguous | -2.372 | Highly Destabilizing | 0.018 | N | 0.487 | neutral | None | None | None | None | N |
| I/F | 0.1663 | likely_benign | 0.1482 | benign | -1.359 | Destabilizing | 0.009 | N | 0.386 | neutral | None | None | None | None | N |
| I/G | 0.5679 | likely_pathogenic | 0.5349 | ambiguous | -2.911 | Highly Destabilizing | 0.009 | N | 0.471 | neutral | None | None | None | None | N |
| I/H | 0.3666 | ambiguous | 0.32 | benign | -2.432 | Highly Destabilizing | 0.245 | N | 0.551 | neutral | None | None | None | None | N |
| I/K | 0.3571 | ambiguous | 0.2984 | benign | -1.654 | Destabilizing | 0.014 | N | 0.479 | neutral | N | 0.474741959 | None | None | N |
| I/L | 0.0999 | likely_benign | 0.095 | benign | -0.818 | Destabilizing | None | N | 0.172 | neutral | N | 0.415213653 | None | None | N |
| I/M | 0.0792 | likely_benign | 0.0755 | benign | -0.811 | Destabilizing | 0.033 | N | 0.47 | neutral | N | 0.496445383 | None | None | N |
| I/N | 0.2426 | likely_benign | 0.2056 | benign | -2.015 | Highly Destabilizing | 0.044 | N | 0.537 | neutral | None | None | None | None | N |
| I/P | 0.955 | likely_pathogenic | 0.9431 | pathogenic | -1.32 | Destabilizing | 0.044 | N | 0.539 | neutral | None | None | None | None | N |
| I/Q | 0.3403 | ambiguous | 0.3016 | benign | -1.842 | Destabilizing | 0.085 | N | 0.557 | neutral | None | None | None | None | N |
| I/R | 0.2559 | likely_benign | 0.2151 | benign | -1.475 | Destabilizing | 0.033 | N | 0.538 | neutral | N | 0.464388893 | None | None | N |
| I/S | 0.1923 | likely_benign | 0.1774 | benign | -2.675 | Highly Destabilizing | 0.009 | N | 0.45 | neutral | None | None | None | None | N |
| I/T | 0.0974 | likely_benign | 0.0843 | benign | -2.297 | Highly Destabilizing | None | N | 0.259 | neutral | N | 0.448360648 | None | None | N |
| I/V | 0.064 | likely_benign | 0.0629 | benign | -1.32 | Destabilizing | None | N | 0.179 | neutral | N | 0.457425635 | None | None | N |
| I/W | 0.6573 | likely_pathogenic | 0.6293 | pathogenic | -1.774 | Destabilizing | 0.497 | N | 0.548 | neutral | None | None | None | None | N |
| I/Y | 0.4375 | ambiguous | 0.3983 | ambiguous | -1.464 | Destabilizing | None | N | 0.271 | 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.