Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5872 | 17839;17840;17841 | chr2:178731051;178731050;178731049 | chr2:179595778;179595777;179595776 |
| N2AB | 5555 | 16888;16889;16890 | chr2:178731051;178731050;178731049 | chr2:179595778;179595777;179595776 |
| N2A | 4628 | 14107;14108;14109 | chr2:178731051;178731050;178731049 | chr2:179595778;179595777;179595776 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/I | rs752094474  |
0.306 | 0.213 | N | 0.436 | 0.24 | 0.515548328021 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| S/I | rs752094474 |
0.306 | 0.213 | N | 0.436 | 0.24 | 0.515548328021 | gnomAD-4.0.0 | 1.59146E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.0248E-05 |
| S/N | rs752094474 |
-0.237 | 0.002 | N | 0.154 | 0.161 | 0.171388866994 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/N | rs752094474 |
-0.237 | 0.002 | N | 0.154 | 0.161 | 0.171388866994 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs752094474 |
-0.237 | 0.002 | N | 0.154 | 0.161 | 0.171388866994 | gnomAD-4.0.0 | 5.12531E-06 | None | None | None | None | N | None | 0 | 3.39075E-05 | None | 0 | 0 | None | 0 | 0 | 2.39327E-06 | 1.34009E-05 | 0 |
| S/T | None | None | 0.183 | N | 0.285 | 0.093 | 0.158396225186 | gnomAD-4.0.0 | 1.59146E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85869E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1056 | likely_benign | 0.1144 | benign | -0.346 | Destabilizing | 0.114 | N | 0.259 | neutral | None | None | None | None | N |
| S/C | 0.2171 | likely_benign | 0.2824 | benign | -0.311 | Destabilizing | 0.978 | D | 0.355 | neutral | N | 0.514827856 | None | None | N |
| S/D | 0.6155 | likely_pathogenic | 0.7329 | pathogenic | 0.52 | Stabilizing | 0.264 | N | 0.24 | neutral | None | None | None | None | N |
| S/E | 0.7348 | likely_pathogenic | 0.7932 | pathogenic | 0.467 | Stabilizing | 0.129 | N | 0.237 | neutral | None | None | None | None | N |
| S/F | 0.2989 | likely_benign | 0.3552 | ambiguous | -0.77 | Destabilizing | 0.716 | D | 0.455 | neutral | None | None | None | None | N |
| S/G | 0.1937 | likely_benign | 0.2441 | benign | -0.516 | Destabilizing | 0.101 | N | 0.237 | neutral | D | 0.53377162 | None | None | N |
| S/H | 0.5435 | ambiguous | 0.6239 | pathogenic | -0.97 | Destabilizing | 0.005 | N | 0.243 | neutral | None | None | None | None | N |
| S/I | 0.2421 | likely_benign | 0.2878 | benign | -0.026 | Destabilizing | 0.213 | N | 0.436 | neutral | N | 0.479803849 | None | None | N |
| S/K | 0.8748 | likely_pathogenic | 0.9299 | pathogenic | -0.354 | Destabilizing | 0.129 | N | 0.249 | neutral | None | None | None | None | N |
| S/L | 0.1377 | likely_benign | 0.147 | benign | -0.026 | Destabilizing | 0.002 | N | 0.283 | neutral | None | None | None | None | N |
| S/M | 0.2544 | likely_benign | 0.2748 | benign | 0.038 | Stabilizing | 0.716 | D | 0.396 | neutral | None | None | None | None | N |
| S/N | 0.2721 | likely_benign | 0.3651 | ambiguous | -0.196 | Destabilizing | 0.002 | N | 0.154 | neutral | N | 0.486808873 | None | None | N |
| S/P | 0.8598 | likely_pathogenic | 0.9115 | pathogenic | -0.1 | Destabilizing | 0.593 | D | 0.429 | neutral | None | None | None | None | N |
| S/Q | 0.7093 | likely_pathogenic | 0.7562 | pathogenic | -0.341 | Destabilizing | 0.012 | N | 0.108 | neutral | None | None | None | None | N |
| S/R | 0.8078 | likely_pathogenic | 0.8808 | pathogenic | -0.263 | Destabilizing | 0.351 | N | 0.361 | neutral | N | 0.500773767 | None | None | N |
| S/T | 0.0959 | likely_benign | 0.1088 | benign | -0.292 | Destabilizing | 0.183 | N | 0.285 | neutral | N | 0.487265752 | None | None | N |
| S/V | 0.2459 | likely_benign | 0.2849 | benign | -0.1 | Destabilizing | 0.01 | N | 0.298 | neutral | None | None | None | None | N |
| S/W | 0.4871 | ambiguous | 0.5273 | ambiguous | -0.783 | Destabilizing | 0.983 | D | 0.467 | neutral | None | None | None | None | N |
| S/Y | 0.2816 | likely_benign | 0.3361 | benign | -0.483 | Destabilizing | 0.716 | D | 0.473 | 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.