Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29879 | 89860;89861;89862 | chr2:178553265;178553264;178553263 | chr2:179417992;179417991;179417990 |
| N2AB | 28238 | 84937;84938;84939 | chr2:178553265;178553264;178553263 | chr2:179417992;179417991;179417990 |
| N2A | 27311 | 82156;82157;82158 | chr2:178553265;178553264;178553263 | chr2:179417992;179417991;179417990 |
| N2B | 20814 | 62665;62666;62667 | chr2:178553265;178553264;178553263 | chr2:179417992;179417991;179417990 |
| Novex-1 | 20939 | 63040;63041;63042 | chr2:178553265;178553264;178553263 | chr2:179417992;179417991;179417990 |
| Novex-2 | 21006 | 63241;63242;63243 | chr2:178553265;178553264;178553263 | chr2:179417992;179417991;179417990 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs756747766  |
None | 0.999 | N | 0.585 | 0.234 | 0.264081493735 | gnomAD-4.0.0 | 6.86599E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.02019E-07 | 0 | 0 |
| N/T | None | None | 0.994 | N | 0.547 | 0.207 | 0.347438807231 | gnomAD-4.0.0 | 1.59533E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85811E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.2595 | likely_benign | 0.2579 | benign | -0.648 | Destabilizing | 0.996 | D | 0.589 | neutral | None | None | None | None | N |
| N/C | 0.349 | ambiguous | 0.3136 | benign | 0.201 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| N/D | 0.1428 | likely_benign | 0.1378 | benign | -0.103 | Destabilizing | 0.998 | D | 0.524 | neutral | N | 0.434586061 | None | None | N |
| N/E | 0.3507 | ambiguous | 0.3579 | ambiguous | -0.101 | Destabilizing | 1.0 | D | 0.587 | neutral | None | None | None | None | N |
| N/F | 0.4892 | ambiguous | 0.4701 | ambiguous | -0.794 | Destabilizing | 0.999 | D | 0.771 | deleterious | None | None | None | None | N |
| N/G | 0.4377 | ambiguous | 0.4221 | ambiguous | -0.88 | Destabilizing | 0.999 | D | 0.476 | neutral | None | None | None | None | N |
| N/H | 0.1385 | likely_benign | 0.134 | benign | -0.819 | Destabilizing | 0.999 | D | 0.611 | neutral | N | 0.501677844 | None | None | N |
| N/I | 0.1273 | likely_benign | 0.1279 | benign | -0.104 | Destabilizing | 0.733 | D | 0.444 | neutral | N | 0.490980848 | None | None | N |
| N/K | 0.3271 | likely_benign | 0.3355 | benign | -0.01 | Destabilizing | 0.999 | D | 0.585 | neutral | N | 0.478952913 | None | None | N |
| N/L | 0.2087 | likely_benign | 0.2069 | benign | -0.104 | Destabilizing | 0.983 | D | 0.578 | neutral | None | None | None | None | N |
| N/M | 0.2772 | likely_benign | 0.2755 | benign | 0.413 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| N/P | 0.3725 | ambiguous | 0.3813 | ambiguous | -0.257 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| N/Q | 0.3391 | likely_benign | 0.344 | ambiguous | -0.604 | Destabilizing | 1.0 | D | 0.621 | neutral | None | None | None | None | N |
| N/R | 0.4342 | ambiguous | 0.4284 | ambiguous | 0.063 | Stabilizing | 1.0 | D | 0.634 | neutral | None | None | None | None | N |
| N/S | 0.1304 | likely_benign | 0.1279 | benign | -0.415 | Destabilizing | 0.998 | D | 0.475 | neutral | N | 0.485206882 | None | None | N |
| N/T | 0.1405 | likely_benign | 0.1453 | benign | -0.248 | Destabilizing | 0.994 | D | 0.547 | neutral | N | 0.486977751 | None | None | N |
| N/V | 0.1555 | likely_benign | 0.1559 | benign | -0.257 | Destabilizing | 0.983 | D | 0.59 | neutral | None | None | None | None | N |
| N/W | 0.7698 | likely_pathogenic | 0.7515 | pathogenic | -0.62 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| N/Y | 0.1472 | likely_benign | 0.137 | benign | -0.405 | Destabilizing | 0.999 | D | 0.742 | deleterious | N | 0.517378016 | 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.