Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8267 | 25024;25025;25026 | chr2:178718207;178718206;178718205 | chr2:179582934;179582933;179582932 |
| N2AB | 7950 | 24073;24074;24075 | chr2:178718207;178718206;178718205 | chr2:179582934;179582933;179582932 |
| N2A | 7023 | 21292;21293;21294 | chr2:178718207;178718206;178718205 | chr2:179582934;179582933;179582932 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/F | rs534974639  |
-0.791 | 0.453 | N | 0.281 | 0.189 | 0.446510307777 | gnomAD-2.1.1 | 8.33E-06 | None | None | None | None | N | None | 1.29938E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/F | rs534974639 |
-0.791 | 0.453 | N | 0.281 | 0.189 | 0.446510307777 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/F | rs534974639 |
-0.791 | 0.453 | N | 0.281 | 0.189 | 0.446510307777 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 1.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| I/F | rs534974639 |
-0.791 | 0.453 | N | 0.281 | 0.189 | 0.446510307777 | gnomAD-4.0.0 | 6.87145E-06 | None | None | None | None | N | None | 1.47035E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | None | None | 0.002 | N | 0.109 | 0.073 | 0.359357374593 | gnomAD-4.0.0 | 1.62361E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44513E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.2267 | likely_benign | 0.2142 | benign | -1.614 | Destabilizing | 0.245 | N | 0.269 | neutral | None | None | None | None | N |
| I/C | 0.7477 | likely_pathogenic | 0.7568 | pathogenic | -0.843 | Destabilizing | 0.977 | D | 0.258 | neutral | None | None | None | None | N |
| I/D | 0.6847 | likely_pathogenic | 0.706 | pathogenic | -1.07 | Destabilizing | 0.847 | D | 0.372 | neutral | None | None | None | None | N |
| I/E | 0.475 | ambiguous | 0.4685 | ambiguous | -1.03 | Destabilizing | 0.537 | D | 0.388 | neutral | None | None | None | None | N |
| I/F | 0.2149 | likely_benign | 0.2277 | benign | -0.988 | Destabilizing | 0.453 | N | 0.281 | neutral | N | 0.47049146 | None | None | N |
| I/G | 0.6329 | likely_pathogenic | 0.6265 | pathogenic | -1.956 | Destabilizing | 0.611 | D | 0.361 | neutral | None | None | None | None | N |
| I/H | 0.4566 | ambiguous | 0.4707 | ambiguous | -1.009 | Destabilizing | 0.982 | D | 0.28 | neutral | None | None | None | None | N |
| I/K | 0.2578 | likely_benign | 0.2528 | benign | -1.114 | Destabilizing | 0.044 | N | 0.391 | neutral | None | None | None | None | N |
| I/L | 0.1065 | likely_benign | 0.1023 | benign | -0.733 | Destabilizing | None | N | 0.058 | neutral | N | 0.446087481 | None | None | N |
| I/M | 0.1114 | likely_benign | 0.1074 | benign | -0.556 | Destabilizing | 0.332 | N | 0.303 | neutral | N | 0.501250117 | None | None | N |
| I/N | 0.3384 | likely_benign | 0.3353 | benign | -1.028 | Destabilizing | 0.806 | D | 0.372 | neutral | N | 0.510042959 | None | None | N |
| I/P | 0.7327 | likely_pathogenic | 0.7888 | pathogenic | -0.996 | Destabilizing | 0.918 | D | 0.372 | neutral | None | None | None | None | N |
| I/Q | 0.3424 | ambiguous | 0.3385 | benign | -1.158 | Destabilizing | 0.823 | D | 0.337 | neutral | None | None | None | None | N |
| I/R | 0.1817 | likely_benign | 0.1859 | benign | -0.501 | Destabilizing | 0.817 | D | 0.362 | neutral | None | None | None | None | N |
| I/S | 0.2278 | likely_benign | 0.2283 | benign | -1.643 | Destabilizing | 0.373 | N | 0.322 | neutral | N | 0.452957525 | None | None | N |
| I/T | 0.0884 | likely_benign | 0.0889 | benign | -1.488 | Destabilizing | 0.002 | N | 0.109 | neutral | N | 0.411033545 | None | None | N |
| I/V | 0.0695 | likely_benign | 0.069 | benign | -0.996 | Destabilizing | None | N | 0.074 | neutral | N | 0.395274658 | None | None | N |
| I/W | 0.7395 | likely_pathogenic | 0.7644 | pathogenic | -1.098 | Destabilizing | 0.995 | D | 0.311 | neutral | None | None | None | None | N |
| I/Y | 0.5772 | likely_pathogenic | 0.5982 | pathogenic | -0.867 | Destabilizing | 0.343 | N | 0.313 | 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.