Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20807 | 62644;62645;62646 | chr2:178589306;178589305;178589304 | chr2:179454033;179454032;179454031 |
| N2AB | 19166 | 57721;57722;57723 | chr2:178589306;178589305;178589304 | chr2:179454033;179454032;179454031 |
| N2A | 18239 | 54940;54941;54942 | chr2:178589306;178589305;178589304 | chr2:179454033;179454032;179454031 |
| N2B | 11742 | 35449;35450;35451 | chr2:178589306;178589305;178589304 | chr2:179454033;179454032;179454031 |
| Novex-1 | 11867 | 35824;35825;35826 | chr2:178589306;178589305;178589304 | chr2:179454033;179454032;179454031 |
| Novex-2 | 11934 | 36025;36026;36027 | chr2:178589306;178589305;178589304 | chr2:179454033;179454032;179454031 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/Q | None | None | 0.864 | N | 0.601 | 0.159 | 0.287603790349 | gnomAD-4.0.0 | 1.59258E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86077E-06 | 0 | 0 |
| K/R | rs1361295739  |
0.266 | 0.006 | N | 0.314 | 0.073 | 0.222439326576 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| K/R | rs1361295739 |
0.266 | 0.006 | N | 0.314 | 0.073 | 0.222439326576 | 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 |
| K/R | rs1361295739 |
0.266 | 0.006 | N | 0.314 | 0.073 | 0.222439326576 | gnomAD-4.0.0 | 6.57531E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47098E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.2739 | likely_benign | 0.3166 | benign | -0.069 | Destabilizing | 0.707 | D | 0.567 | neutral | None | None | None | None | N |
| K/C | 0.6696 | likely_pathogenic | 0.7736 | pathogenic | -0.499 | Destabilizing | 0.995 | D | 0.694 | prob.neutral | None | None | None | None | N |
| K/D | 0.4505 | ambiguous | 0.5124 | ambiguous | -0.443 | Destabilizing | 0.894 | D | 0.599 | neutral | None | None | None | None | N |
| K/E | 0.1851 | likely_benign | 0.2074 | benign | -0.47 | Destabilizing | 0.477 | N | 0.573 | neutral | N | 0.413189281 | None | None | N |
| K/F | 0.7848 | likely_pathogenic | 0.8396 | pathogenic | -0.453 | Destabilizing | 0.995 | D | 0.667 | neutral | None | None | None | None | N |
| K/G | 0.2742 | likely_benign | 0.3097 | benign | -0.167 | Destabilizing | 0.894 | D | 0.524 | neutral | None | None | None | None | N |
| K/H | 0.3238 | likely_benign | 0.3838 | ambiguous | -0.246 | Destabilizing | 0.985 | D | 0.605 | neutral | None | None | None | None | N |
| K/I | 0.4441 | ambiguous | 0.5298 | ambiguous | 0.107 | Stabilizing | 0.928 | D | 0.673 | neutral | N | 0.512334768 | None | None | N |
| K/L | 0.4002 | ambiguous | 0.4644 | ambiguous | 0.107 | Stabilizing | 0.894 | D | 0.524 | neutral | None | None | None | None | N |
| K/M | 0.2897 | likely_benign | 0.3353 | benign | -0.167 | Destabilizing | 0.995 | D | 0.606 | neutral | None | None | None | None | N |
| K/N | 0.3604 | ambiguous | 0.4266 | ambiguous | -0.054 | Destabilizing | 0.864 | D | 0.597 | neutral | N | 0.433796627 | None | None | N |
| K/P | 0.5818 | likely_pathogenic | 0.6229 | pathogenic | 0.069 | Stabilizing | 0.945 | D | 0.585 | neutral | None | None | None | None | N |
| K/Q | 0.1445 | likely_benign | 0.161 | benign | -0.22 | Destabilizing | 0.864 | D | 0.601 | neutral | N | 0.473853738 | None | None | N |
| K/R | 0.078 | likely_benign | 0.0788 | benign | -0.171 | Destabilizing | 0.006 | N | 0.314 | neutral | N | 0.478702197 | None | None | N |
| K/S | 0.3419 | ambiguous | 0.4044 | ambiguous | -0.399 | Destabilizing | 0.707 | D | 0.553 | neutral | None | None | None | None | N |
| K/T | 0.1781 | likely_benign | 0.2098 | benign | -0.324 | Destabilizing | 0.864 | D | 0.559 | neutral | N | 0.467754485 | None | None | N |
| K/V | 0.37 | ambiguous | 0.436 | ambiguous | 0.069 | Stabilizing | 0.894 | D | 0.612 | neutral | None | None | None | None | N |
| K/W | 0.7263 | likely_pathogenic | 0.7623 | pathogenic | -0.553 | Destabilizing | 0.995 | D | 0.711 | prob.delet. | None | None | None | None | N |
| K/Y | 0.6414 | likely_pathogenic | 0.7124 | pathogenic | -0.216 | Destabilizing | 0.981 | D | 0.618 | 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.