Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6799 | 20620;20621;20622 | chr2:178725927;178725926;178725925 | chr2:179590654;179590653;179590652 |
| N2AB | 6482 | 19669;19670;19671 | chr2:178725927;178725926;178725925 | chr2:179590654;179590653;179590652 |
| N2A | 5555 | 16888;16889;16890 | chr2:178725927;178725926;178725925 | chr2:179590654;179590653;179590652 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs780069933  |
0.297 | 0.96 | N | 0.459 | 0.24 | 0.229264304666 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| R/Q | rs780069933 |
0.297 | 0.96 | N | 0.459 | 0.24 | 0.229264304666 | gnomAD-4.0.0 | 2.73816E-05 | None | None | None | None | N | None | 0 | 2.24075E-05 | None | 0 | 7.56888E-05 | None | 0 | 1.73671E-04 | 2.96917E-05 | 2.3204E-05 | 0 |
| R/W | rs751534449 |
-0.285 | 1.0 | N | 0.515 | 0.445 | 0.410868550352 | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 5.34E-05 | 0 |
| R/W | rs751534449 |
-0.285 | 1.0 | N | 0.515 | 0.445 | 0.410868550352 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/W | rs751534449 |
-0.285 | 1.0 | N | 0.515 | 0.445 | 0.410868550352 | gnomAD-4.0.0 | 2.29416E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23254E-05 | None | 0 | 0 | 3.05239E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.7159 | likely_pathogenic | 0.6976 | pathogenic | 0.075 | Stabilizing | 0.762 | D | 0.428 | neutral | None | None | None | None | N |
| R/C | 0.3818 | ambiguous | 0.3841 | ambiguous | -0.122 | Destabilizing | 0.998 | D | 0.459 | neutral | None | None | None | None | N |
| R/D | 0.8881 | likely_pathogenic | 0.8832 | pathogenic | -0.163 | Destabilizing | 0.94 | D | 0.429 | neutral | None | None | None | None | N |
| R/E | 0.6307 | likely_pathogenic | 0.6258 | pathogenic | -0.097 | Destabilizing | 0.49 | N | 0.431 | neutral | None | None | None | None | N |
| R/F | 0.7236 | likely_pathogenic | 0.691 | pathogenic | -0.121 | Destabilizing | 0.985 | D | 0.447 | neutral | None | None | None | None | N |
| R/G | 0.5822 | likely_pathogenic | 0.547 | ambiguous | -0.12 | Destabilizing | 0.968 | D | 0.446 | neutral | N | 0.500139049 | None | None | N |
| R/H | 0.1662 | likely_benign | 0.1573 | benign | -0.617 | Destabilizing | 0.986 | D | 0.405 | neutral | None | None | None | None | N |
| R/I | 0.3863 | ambiguous | 0.3809 | ambiguous | 0.555 | Stabilizing | 0.986 | D | 0.451 | neutral | None | None | None | None | N |
| R/K | 0.1126 | likely_benign | 0.1051 | benign | -0.058 | Destabilizing | 0.002 | N | 0.197 | neutral | None | None | None | None | N |
| R/L | 0.4416 | ambiguous | 0.4179 | ambiguous | 0.555 | Stabilizing | 0.926 | D | 0.446 | neutral | D | 0.526362858 | None | None | N |
| R/M | 0.4254 | ambiguous | 0.4097 | ambiguous | 0.063 | Stabilizing | 0.986 | D | 0.416 | neutral | None | None | None | None | N |
| R/N | 0.7552 | likely_pathogenic | 0.7503 | pathogenic | 0.11 | Stabilizing | 0.94 | D | 0.42 | neutral | None | None | None | None | N |
| R/P | 0.9568 | likely_pathogenic | 0.9431 | pathogenic | 0.415 | Stabilizing | 0.997 | D | 0.437 | neutral | N | 0.495024853 | None | None | N |
| R/Q | 0.1647 | likely_benign | 0.1526 | benign | 0.048 | Stabilizing | 0.96 | D | 0.459 | neutral | N | 0.493498291 | None | None | N |
| R/S | 0.7823 | likely_pathogenic | 0.755 | pathogenic | -0.162 | Destabilizing | 0.886 | D | 0.445 | neutral | None | None | None | None | N |
| R/T | 0.4674 | ambiguous | 0.4656 | ambiguous | 0.035 | Stabilizing | 0.94 | D | 0.443 | neutral | None | None | None | None | N |
| R/V | 0.5018 | ambiguous | 0.4835 | ambiguous | 0.415 | Stabilizing | 0.943 | D | 0.409 | neutral | None | None | None | None | N |
| R/W | 0.3153 | likely_benign | 0.3033 | benign | -0.211 | Destabilizing | 1.0 | D | 0.515 | neutral | N | 0.513889577 | None | None | N |
| R/Y | 0.5368 | ambiguous | 0.5264 | ambiguous | 0.197 | Stabilizing | 0.985 | D | 0.447 | 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.