Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34311 | 103156;103157;103158 | chr2:178533684;178533683;178533682 | chr2:179398411;179398410;179398409 |
| N2AB | 32670 | 98233;98234;98235 | chr2:178533684;178533683;178533682 | chr2:179398411;179398410;179398409 |
| N2A | 31743 | 95452;95453;95454 | chr2:178533684;178533683;178533682 | chr2:179398411;179398410;179398409 |
| N2B | 25246 | 75961;75962;75963 | chr2:178533684;178533683;178533682 | chr2:179398411;179398410;179398409 |
| Novex-1 | 25371 | 76336;76337;76338 | chr2:178533684;178533683;178533682 | chr2:179398411;179398410;179398409 |
| Novex-2 | 25438 | 76537;76538;76539 | chr2:178533684;178533683;178533682 | chr2:179398411;179398410;179398409 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/P | rs566139261  |
-0.466 | 0.928 | N | 0.749 | 0.361 | 0.191931220699 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| S/P | rs566139261 |
-0.466 | 0.928 | N | 0.749 | 0.361 | 0.191931220699 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92827E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | rs566139261 |
-0.466 | 0.928 | N | 0.749 | 0.361 | 0.191931220699 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| S/P | rs566139261 |
-0.466 | 0.928 | N | 0.749 | 0.361 | 0.191931220699 | gnomAD-4.0.0 | 6.57177E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93274E-04 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1016 | likely_benign | 0.1147 | benign | -0.381 | Destabilizing | 0.273 | N | 0.547 | neutral | N | 0.497944106 | None | None | N |
| S/C | 0.128 | likely_benign | 0.1527 | benign | -0.302 | Destabilizing | 0.985 | D | 0.737 | prob.delet. | None | None | None | None | N |
| S/D | 0.5503 | ambiguous | 0.6336 | pathogenic | 0.385 | Stabilizing | 0.707 | D | 0.692 | prob.neutral | None | None | None | None | N |
| S/E | 0.5813 | likely_pathogenic | 0.7035 | pathogenic | 0.306 | Stabilizing | 0.707 | D | 0.695 | prob.neutral | None | None | None | None | N |
| S/F | 0.3455 | ambiguous | 0.5137 | ambiguous | -0.882 | Destabilizing | 0.945 | D | 0.807 | deleterious | None | None | None | None | N |
| S/G | 0.1544 | likely_benign | 0.1931 | benign | -0.516 | Destabilizing | 0.707 | D | 0.651 | neutral | None | None | None | None | N |
| S/H | 0.3731 | ambiguous | 0.5191 | ambiguous | -0.957 | Destabilizing | 0.995 | D | 0.737 | prob.delet. | None | None | None | None | N |
| S/I | 0.2586 | likely_benign | 0.3784 | ambiguous | -0.156 | Destabilizing | 0.809 | D | 0.794 | deleterious | None | None | None | None | N |
| S/K | 0.5944 | likely_pathogenic | 0.7671 | pathogenic | -0.433 | Destabilizing | 0.707 | D | 0.695 | prob.neutral | None | None | None | None | N |
| S/L | 0.1646 | likely_benign | 0.2283 | benign | -0.156 | Destabilizing | 0.477 | N | 0.731 | prob.delet. | N | 0.499792332 | None | None | N |
| S/M | 0.2132 | likely_benign | 0.2999 | benign | -0.034 | Destabilizing | 0.985 | D | 0.74 | deleterious | None | None | None | None | N |
| S/N | 0.1657 | likely_benign | 0.2307 | benign | -0.155 | Destabilizing | 0.707 | D | 0.699 | prob.neutral | None | None | None | None | N |
| S/P | 0.7318 | likely_pathogenic | 0.7587 | pathogenic | -0.201 | Destabilizing | 0.928 | D | 0.749 | deleterious | N | 0.52068768 | None | None | N |
| S/Q | 0.5002 | ambiguous | 0.65 | pathogenic | -0.36 | Destabilizing | 0.945 | D | 0.744 | deleterious | None | None | None | None | N |
| S/R | 0.5212 | ambiguous | 0.711 | pathogenic | -0.263 | Destabilizing | 0.894 | D | 0.753 | deleterious | None | None | None | None | N |
| S/T | 0.0766 | likely_benign | 0.0832 | benign | -0.278 | Destabilizing | 0.002 | N | 0.353 | neutral | N | 0.511740122 | None | None | N |
| S/V | 0.2423 | likely_benign | 0.3243 | benign | -0.201 | Destabilizing | 0.547 | D | 0.721 | prob.delet. | None | None | None | None | N |
| S/W | 0.4266 | ambiguous | 0.5947 | pathogenic | -0.884 | Destabilizing | 0.995 | D | 0.753 | deleterious | None | None | None | None | N |
| S/Y | 0.2418 | likely_benign | 0.3744 | ambiguous | -0.604 | Destabilizing | 0.945 | D | 0.801 | deleterious | 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.