Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6756 | 20491;20492;20493 | chr2:178727099;178727098;178727097 | chr2:179591826;179591825;179591824 |
| N2AB | 6439 | 19540;19541;19542 | chr2:178727099;178727098;178727097 | chr2:179591826;179591825;179591824 |
| N2A | 5512 | 16759;16760;16761 | chr2:178727099;178727098;178727097 | chr2:179591826;179591825;179591824 |
| 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/K | None | None | 0.351 | N | 0.437 | 0.238 | 0.677119849893 | gnomAD-4.0.0 | 1.81613E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.24699E-06 | 0 | 0 |
| I/M | None | None | 0.655 | D | 0.332 | 0.113 | 0.462461958149 | gnomAD-4.0.0 | 7.2273E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.34681E-07 | 0 | 0 |
| I/V | rs767498851  |
-0.164 | 0.001 | N | 0.097 | 0.087 | 0.505765104075 | gnomAD-2.1.1 | 4.57E-06 | None | None | None | None | N | None | 0 | 3.68E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs767498851 |
-0.164 | 0.001 | N | 0.097 | 0.087 | 0.505765104075 | gnomAD-4.0.0 | 1.82085E-06 | None | None | None | None | N | None | 0 | 2.80096E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1303 | likely_benign | 0.198 | benign | -1.494 | Destabilizing | 0.061 | N | 0.215 | neutral | None | None | None | None | N |
| I/C | 0.6545 | likely_pathogenic | 0.7502 | pathogenic | -1.019 | Destabilizing | 0.94 | D | 0.408 | neutral | None | None | None | None | N |
| I/D | 0.426 | ambiguous | 0.6068 | pathogenic | -0.591 | Destabilizing | 0.418 | N | 0.483 | neutral | None | None | None | None | N |
| I/E | 0.3139 | likely_benign | 0.491 | ambiguous | -0.579 | Destabilizing | 0.418 | N | 0.437 | neutral | None | None | None | None | N |
| I/F | 0.1093 | likely_benign | 0.1379 | benign | -0.935 | Destabilizing | 0.264 | N | 0.287 | neutral | None | None | None | None | N |
| I/G | 0.4777 | ambiguous | 0.6062 | pathogenic | -1.818 | Destabilizing | 0.228 | N | 0.406 | neutral | None | None | None | None | N |
| I/H | 0.273 | likely_benign | 0.3815 | ambiguous | -0.97 | Destabilizing | 0.94 | D | 0.425 | neutral | None | None | None | None | N |
| I/K | 0.2015 | likely_benign | 0.341 | ambiguous | -0.983 | Destabilizing | 0.351 | N | 0.437 | neutral | N | 0.417461737 | None | None | N |
| I/L | 0.0948 | likely_benign | 0.1092 | benign | -0.684 | Destabilizing | 0.001 | N | 0.099 | neutral | N | 0.473317807 | None | None | N |
| I/M | 0.0748 | likely_benign | 0.0847 | benign | -0.613 | Destabilizing | 0.655 | D | 0.332 | neutral | D | 0.524920063 | None | None | N |
| I/N | 0.1498 | likely_benign | 0.2181 | benign | -0.817 | Destabilizing | 0.418 | N | 0.482 | neutral | None | None | None | None | N |
| I/P | 0.7336 | likely_pathogenic | 0.8915 | pathogenic | -0.922 | Destabilizing | 0.593 | D | 0.495 | neutral | None | None | None | None | N |
| I/Q | 0.2358 | likely_benign | 0.3456 | ambiguous | -0.957 | Destabilizing | 0.836 | D | 0.487 | neutral | None | None | None | None | N |
| I/R | 0.1454 | likely_benign | 0.2578 | benign | -0.452 | Destabilizing | 0.523 | D | 0.475 | neutral | N | 0.460484583 | None | None | N |
| I/S | 0.1383 | likely_benign | 0.1992 | benign | -1.502 | Destabilizing | 0.012 | N | 0.178 | neutral | None | None | None | None | N |
| I/T | 0.0663 | likely_benign | 0.0952 | benign | -1.37 | Destabilizing | 0.001 | N | 0.137 | neutral | N | 0.40507123 | None | None | N |
| I/V | 0.0701 | likely_benign | 0.08 | benign | -0.922 | Destabilizing | 0.001 | N | 0.097 | neutral | N | 0.466314477 | None | None | N |
| I/W | 0.5795 | likely_pathogenic | 0.6741 | pathogenic | -0.976 | Destabilizing | 0.983 | D | 0.429 | neutral | None | None | None | None | N |
| I/Y | 0.3612 | ambiguous | 0.4383 | ambiguous | -0.758 | Destabilizing | 0.836 | D | 0.448 | 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.