Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33044 | 99355;99356;99357 | chr2:178538699;178538698;178538697 | chr2:179403426;179403425;179403424 |
| N2AB | 31403 | 94432;94433;94434 | chr2:178538699;178538698;178538697 | chr2:179403426;179403425;179403424 |
| N2A | 30476 | 91651;91652;91653 | chr2:178538699;178538698;178538697 | chr2:179403426;179403425;179403424 |
| N2B | 23979 | 72160;72161;72162 | chr2:178538699;178538698;178538697 | chr2:179403426;179403425;179403424 |
| Novex-1 | 24104 | 72535;72536;72537 | chr2:178538699;178538698;178538697 | chr2:179403426;179403425;179403424 |
| Novex-2 | 24171 | 72736;72737;72738 | chr2:178538699;178538698;178538697 | chr2:179403426;179403425;179403424 |
| 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/G | None | None | 0.822 | N | 0.501 | 0.22 | 0.269558022972 | gnomAD-4.0.0 | 1.59144E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8586E-06 | 0 | 0 |
| A/V | rs548242100  |
-0.21 | 0.698 | N | 0.477 | 0.21 | 0.31291088546 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 5.79E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| A/V | rs548242100 |
-0.21 | 0.698 | N | 0.477 | 0.21 | 0.31291088546 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs548242100 |
-0.21 | 0.698 | N | 0.477 | 0.21 | 0.31291088546 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| A/V | rs548242100 |
-0.21 | 0.698 | N | 0.477 | 0.21 | 0.31291088546 | gnomAD-4.0.0 | 3.84377E-06 | None | None | None | None | N | None | 0 | 3.38891E-05 | None | 0 | 0 | None | 0 | 0 | 2.39342E-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 | 0.3788 | ambiguous | 0.413 | ambiguous | -0.739 | Destabilizing | 0.998 | D | 0.539 | neutral | None | None | None | None | N |
| A/D | 0.4944 | ambiguous | 0.4129 | ambiguous | -0.387 | Destabilizing | 0.942 | D | 0.59 | neutral | N | 0.424395205 | None | None | N |
| A/E | 0.4505 | ambiguous | 0.3718 | ambiguous | -0.508 | Destabilizing | 0.956 | D | 0.481 | neutral | None | None | None | None | N |
| A/F | 0.3001 | likely_benign | 0.3022 | benign | -0.959 | Destabilizing | 0.978 | D | 0.635 | neutral | None | None | None | None | N |
| A/G | 0.1299 | likely_benign | 0.1319 | benign | -0.653 | Destabilizing | 0.822 | D | 0.501 | neutral | N | 0.452485883 | None | None | N |
| A/H | 0.4928 | ambiguous | 0.4683 | ambiguous | -0.606 | Destabilizing | 0.998 | D | 0.645 | neutral | None | None | None | None | N |
| A/I | 0.1527 | likely_benign | 0.153 | benign | -0.412 | Destabilizing | 0.915 | D | 0.524 | neutral | None | None | None | None | N |
| A/K | 0.6333 | likely_pathogenic | 0.5685 | pathogenic | -0.739 | Destabilizing | 0.956 | D | 0.49 | neutral | None | None | None | None | N |
| A/L | 0.1258 | likely_benign | 0.1259 | benign | -0.412 | Destabilizing | 0.754 | D | 0.482 | neutral | None | None | None | None | N |
| A/M | 0.1744 | likely_benign | 0.171 | benign | -0.443 | Destabilizing | 0.994 | D | 0.555 | neutral | None | None | None | None | N |
| A/N | 0.1911 | likely_benign | 0.1806 | benign | -0.375 | Destabilizing | 0.956 | D | 0.613 | neutral | None | None | None | None | N |
| A/P | 0.2804 | likely_benign | 0.3132 | benign | -0.417 | Destabilizing | 0.971 | D | 0.521 | neutral | N | 0.474248022 | None | None | N |
| A/Q | 0.3679 | ambiguous | 0.3374 | benign | -0.621 | Destabilizing | 0.978 | D | 0.517 | neutral | None | None | None | None | N |
| A/R | 0.6043 | likely_pathogenic | 0.5554 | ambiguous | -0.283 | Destabilizing | 0.956 | D | 0.517 | neutral | None | None | None | None | N |
| A/S | 0.0806 | likely_benign | 0.0781 | benign | -0.665 | Destabilizing | 0.153 | N | 0.388 | neutral | N | 0.444615761 | None | None | N |
| A/T | 0.0724 | likely_benign | 0.0672 | benign | -0.695 | Destabilizing | 0.014 | N | 0.327 | neutral | N | 0.375681325 | None | None | N |
| A/V | 0.0938 | likely_benign | 0.0924 | benign | -0.417 | Destabilizing | 0.698 | D | 0.477 | neutral | N | 0.458798567 | None | None | N |
| A/W | 0.7794 | likely_pathogenic | 0.7814 | pathogenic | -1.114 | Destabilizing | 0.998 | D | 0.739 | prob.delet. | None | None | None | None | N |
| A/Y | 0.4885 | ambiguous | 0.485 | ambiguous | -0.763 | Destabilizing | 0.993 | D | 0.641 | 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.