Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8574 | 25945;25946;25947 | chr2:178715694;178715693;178715692 | chr2:179580421;179580420;179580419 |
| N2AB | 8257 | 24994;24995;24996 | chr2:178715694;178715693;178715692 | chr2:179580421;179580420;179580419 |
| N2A | 7330 | 22213;22214;22215 | chr2:178715694;178715693;178715692 | chr2:179580421;179580420;179580419 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 0.656 | N | 0.391 | 0.153 | 0.340753184043 | gnomAD-4.0.0 | 6.85839E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00922E-07 | 0 | 0 |
| G/R | None | None | 0.979 | N | 0.442 | 0.256 | 0.589131389434 | gnomAD-4.0.0 | 6.85979E-07 | None | None | None | None | N | None | 0 | 0 | None | 3.83966E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs752013701  |
-0.454 | 0.028 | N | 0.11 | 0.107 | None | gnomAD-2.1.1 | 1.83E-05 | None | None | None | None | N | None | 8.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.42E-05 | 0 |
| G/S | rs752013701 |
-0.454 | 0.028 | N | 0.11 | 0.107 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 9.67E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs752013701 |
-0.454 | 0.028 | N | 0.11 | 0.107 | None | gnomAD-4.0.0 | 5.59085E-06 | None | None | None | None | N | None | 6.68396E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39619E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0873 | likely_benign | 0.088 | benign | -0.303 | Destabilizing | 0.003 | N | 0.121 | neutral | N | 0.44149339 | None | None | N |
| G/C | 0.2984 | likely_benign | 0.2901 | benign | -0.745 | Destabilizing | 0.075 | N | 0.403 | neutral | N | 0.49332772 | None | None | N |
| G/D | 0.5405 | ambiguous | 0.5334 | ambiguous | -0.362 | Destabilizing | 0.656 | D | 0.391 | neutral | N | 0.453057178 | None | None | N |
| G/E | 0.4423 | ambiguous | 0.4413 | ambiguous | -0.387 | Destabilizing | 0.871 | D | 0.397 | neutral | None | None | None | None | N |
| G/F | 0.576 | likely_pathogenic | 0.5655 | pathogenic | -0.541 | Destabilizing | 0.96 | D | 0.499 | neutral | None | None | None | None | N |
| G/H | 0.5205 | ambiguous | 0.4966 | ambiguous | -0.795 | Destabilizing | 0.995 | D | 0.433 | neutral | None | None | None | None | N |
| G/I | 0.2497 | likely_benign | 0.2501 | benign | 0.117 | Stabilizing | 0.772 | D | 0.473 | neutral | None | None | None | None | N |
| G/K | 0.6103 | likely_pathogenic | 0.5911 | pathogenic | -0.875 | Destabilizing | 0.772 | D | 0.398 | neutral | None | None | None | None | N |
| G/L | 0.3578 | ambiguous | 0.3533 | ambiguous | 0.117 | Stabilizing | 0.021 | N | 0.39 | neutral | None | None | None | None | N |
| G/M | 0.4029 | ambiguous | 0.4004 | ambiguous | -0.155 | Destabilizing | 0.96 | D | 0.479 | neutral | None | None | None | None | N |
| G/N | 0.4059 | ambiguous | 0.3947 | ambiguous | -0.668 | Destabilizing | 0.772 | D | 0.429 | neutral | None | None | None | None | N |
| G/P | 0.9488 | likely_pathogenic | 0.948 | pathogenic | 0.02 | Stabilizing | 0.947 | D | 0.436 | neutral | None | None | None | None | N |
| G/Q | 0.433 | ambiguous | 0.422 | ambiguous | -0.727 | Destabilizing | 0.96 | D | 0.467 | neutral | None | None | None | None | N |
| G/R | 0.442 | ambiguous | 0.4221 | ambiguous | -0.691 | Destabilizing | 0.979 | D | 0.442 | neutral | N | 0.455846767 | None | None | N |
| G/S | 0.0824 | likely_benign | 0.0812 | benign | -0.991 | Destabilizing | 0.028 | N | 0.11 | neutral | N | 0.387658905 | None | None | N |
| G/T | 0.11 | likely_benign | 0.1109 | benign | -0.906 | Destabilizing | 0.037 | N | 0.291 | neutral | None | None | None | None | N |
| G/V | 0.1714 | likely_benign | 0.1736 | benign | 0.02 | Stabilizing | 0.719 | D | 0.427 | neutral | N | 0.461927378 | None | None | N |
| G/W | 0.4811 | ambiguous | 0.4706 | ambiguous | -0.944 | Destabilizing | 0.998 | D | 0.474 | neutral | None | None | None | None | N |
| G/Y | 0.5307 | ambiguous | 0.513 | ambiguous | -0.454 | Destabilizing | 0.993 | D | 0.499 | 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.