Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20944 | 63055;63056;63057 | chr2:178588895;178588894;178588893 | chr2:179453622;179453621;179453620 |
| N2AB | 19303 | 58132;58133;58134 | chr2:178588895;178588894;178588893 | chr2:179453622;179453621;179453620 |
| N2A | 18376 | 55351;55352;55353 | chr2:178588895;178588894;178588893 | chr2:179453622;179453621;179453620 |
| N2B | 11879 | 35860;35861;35862 | chr2:178588895;178588894;178588893 | chr2:179453622;179453621;179453620 |
| Novex-1 | 12004 | 36235;36236;36237 | chr2:178588895;178588894;178588893 | chr2:179453622;179453621;179453620 |
| Novex-2 | 12071 | 36436;36437;36438 | chr2:178588895;178588894;178588893 | chr2:179453622;179453621;179453620 |
| 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/M | None | None | 0.062 | N | 0.156 | 0.115 | 0.197625483188 | gnomAD-4.0.0 | 4.79126E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29738E-06 | 0 | 0 |
| I/T | None | None | 0.801 | N | 0.47 | 0.26 | 0.478605750892 | gnomAD-4.0.0 | 1.59261E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85966E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.3543 | ambiguous | 0.4242 | ambiguous | -0.451 | Destabilizing | 0.688 | D | 0.494 | neutral | None | None | None | None | I |
| I/C | 0.7019 | likely_pathogenic | 0.7385 | pathogenic | -0.584 | Destabilizing | 0.991 | D | 0.489 | neutral | None | None | None | None | I |
| I/D | 0.91 | likely_pathogenic | 0.9155 | pathogenic | -0.228 | Destabilizing | 0.991 | D | 0.576 | neutral | None | None | None | None | I |
| I/E | 0.8293 | likely_pathogenic | 0.8237 | pathogenic | -0.33 | Destabilizing | 0.915 | D | 0.562 | neutral | None | None | None | None | I |
| I/F | 0.1223 | likely_benign | 0.1266 | benign | -0.567 | Destabilizing | 0.842 | D | 0.405 | neutral | None | None | None | None | I |
| I/G | 0.8113 | likely_pathogenic | 0.8585 | pathogenic | -0.583 | Destabilizing | 0.915 | D | 0.581 | neutral | None | None | None | None | I |
| I/H | 0.6791 | likely_pathogenic | 0.6613 | pathogenic | 0.109 | Stabilizing | 0.998 | D | 0.554 | neutral | None | None | None | None | I |
| I/K | 0.7924 | likely_pathogenic | 0.7868 | pathogenic | -0.25 | Destabilizing | 0.801 | D | 0.587 | neutral | N | 0.492638995 | None | None | I |
| I/L | 0.1093 | likely_benign | 0.1079 | benign | -0.23 | Destabilizing | 0.051 | N | 0.239 | neutral | N | 0.470572999 | None | None | I |
| I/M | 0.0841 | likely_benign | 0.0764 | benign | -0.374 | Destabilizing | 0.062 | N | 0.156 | neutral | N | 0.420280251 | None | None | I |
| I/N | 0.4924 | ambiguous | 0.5151 | ambiguous | -0.042 | Destabilizing | 0.974 | D | 0.583 | neutral | None | None | None | None | I |
| I/P | 0.9394 | likely_pathogenic | 0.9561 | pathogenic | -0.272 | Destabilizing | 0.991 | D | 0.577 | neutral | None | None | None | None | I |
| I/Q | 0.6921 | likely_pathogenic | 0.683 | pathogenic | -0.274 | Destabilizing | 0.974 | D | 0.577 | neutral | None | None | None | None | I |
| I/R | 0.6438 | likely_pathogenic | 0.6426 | pathogenic | 0.298 | Stabilizing | 0.966 | D | 0.572 | neutral | N | 0.475440101 | None | None | I |
| I/S | 0.4351 | ambiguous | 0.478 | ambiguous | -0.448 | Destabilizing | 0.915 | D | 0.562 | neutral | None | None | None | None | I |
| I/T | 0.2591 | likely_benign | 0.301 | benign | -0.444 | Destabilizing | 0.801 | D | 0.47 | neutral | N | 0.49419922 | None | None | I |
| I/V | 0.0969 | likely_benign | 0.105 | benign | -0.272 | Destabilizing | 0.136 | N | 0.382 | neutral | N | 0.433726764 | None | None | I |
| I/W | 0.6562 | likely_pathogenic | 0.641 | pathogenic | -0.583 | Destabilizing | 0.998 | D | 0.555 | neutral | None | None | None | None | I |
| I/Y | 0.3897 | ambiguous | 0.3743 | ambiguous | -0.327 | Destabilizing | 0.974 | D | 0.507 | neutral | None | None | None | None | I |
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.