Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16922 | 50989;50990;50991 | chr2:178611465;178611464;178611463 | chr2:179476192;179476191;179476190 |
| N2AB | 15281 | 46066;46067;46068 | chr2:178611465;178611464;178611463 | chr2:179476192;179476191;179476190 |
| N2A | 14354 | 43285;43286;43287 | chr2:178611465;178611464;178611463 | chr2:179476192;179476191;179476190 |
| N2B | 7857 | 23794;23795;23796 | chr2:178611465;178611464;178611463 | chr2:179476192;179476191;179476190 |
| Novex-1 | 7982 | 24169;24170;24171 | chr2:178611465;178611464;178611463 | chr2:179476192;179476191;179476190 |
| Novex-2 | 8049 | 24370;24371;24372 | chr2:178611465;178611464;178611463 | chr2:179476192;179476191;179476190 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | None | None | 1.0 | N | 0.675 | 0.275 | 0.183819452728 | gnomAD-4.0.0 | 1.59303E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88331E-05 | 0 | 0 | 0 | 0 |
| K/Q | None | None | 1.0 | N | 0.66 | 0.364 | 0.195762928549 | gnomAD-4.0.0 | 2.05359E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69931E-06 | 0 | 0 |
| K/T | rs1425233926  |
-1.244 | 1.0 | N | 0.675 | 0.489 | 0.297031009988 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.97E-06 | 0 |
| K/T | rs1425233926 |
-1.244 | 1.0 | N | 0.675 | 0.489 | 0.297031009988 | gnomAD-4.0.0 | 1.36906E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79955E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.4734 | ambiguous | 0.6569 | pathogenic | -0.716 | Destabilizing | 0.999 | D | 0.632 | neutral | None | None | None | None | N |
| K/C | 0.7618 | likely_pathogenic | 0.8819 | pathogenic | -0.674 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| K/D | 0.7489 | likely_pathogenic | 0.8611 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| K/E | 0.2047 | likely_benign | 0.3005 | benign | -0.31 | Destabilizing | 0.999 | D | 0.535 | neutral | N | 0.476980979 | None | None | N |
| K/F | 0.9109 | likely_pathogenic | 0.9593 | pathogenic | -0.14 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | N |
| K/G | 0.6183 | likely_pathogenic | 0.7648 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| K/H | 0.4234 | ambiguous | 0.5571 | ambiguous | -1.267 | Destabilizing | 1.0 | D | 0.613 | neutral | None | None | None | None | N |
| K/I | 0.5351 | ambiguous | 0.6726 | pathogenic | 0.379 | Stabilizing | 1.0 | D | 0.666 | neutral | N | 0.483080493 | None | None | N |
| K/L | 0.5287 | ambiguous | 0.6869 | pathogenic | 0.379 | Stabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| K/M | 0.295 | likely_benign | 0.416 | ambiguous | 0.063 | Stabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| K/N | 0.5445 | ambiguous | 0.6972 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.675 | neutral | N | 0.479057214 | None | None | N |
| K/P | 0.987 | likely_pathogenic | 0.9892 | pathogenic | 0.042 | Stabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| K/Q | 0.1327 | likely_benign | 0.189 | benign | -0.758 | Destabilizing | 1.0 | D | 0.66 | neutral | N | 0.4797167 | None | None | N |
| K/R | 0.102 | likely_benign | 0.1119 | benign | -0.79 | Destabilizing | 0.999 | D | 0.545 | neutral | N | 0.474952379 | None | None | N |
| K/S | 0.5145 | ambiguous | 0.6913 | pathogenic | -1.422 | Destabilizing | 0.999 | D | 0.608 | neutral | None | None | None | None | N |
| K/T | 0.2023 | likely_benign | 0.3181 | benign | -1.033 | Destabilizing | 1.0 | D | 0.675 | neutral | N | 0.452991297 | None | None | N |
| K/V | 0.4244 | ambiguous | 0.5839 | pathogenic | 0.042 | Stabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| K/W | 0.9219 | likely_pathogenic | 0.957 | pathogenic | -0.103 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| K/Y | 0.8115 | likely_pathogenic | 0.8992 | pathogenic | 0.158 | Stabilizing | 1.0 | D | 0.656 | 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.