Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28506 | 85741;85742;85743 | chr2:178560616;178560615;178560614 | chr2:179425343;179425342;179425341 |
| N2AB | 26865 | 80818;80819;80820 | chr2:178560616;178560615;178560614 | chr2:179425343;179425342;179425341 |
| N2A | 25938 | 78037;78038;78039 | chr2:178560616;178560615;178560614 | chr2:179425343;179425342;179425341 |
| N2B | 19441 | 58546;58547;58548 | chr2:178560616;178560615;178560614 | chr2:179425343;179425342;179425341 |
| Novex-1 | 19566 | 58921;58922;58923 | chr2:178560616;178560615;178560614 | chr2:179425343;179425342;179425341 |
| Novex-2 | 19633 | 59122;59123;59124 | chr2:178560616;178560615;178560614 | chr2:179425343;179425342;179425341 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs1387892169  |
0.143 | 0.196 | N | 0.275 | 0.039 | 0.154104182512 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.61E-05 | None | 0 | None | 0 | 0 | 0 |
| Q/H | rs1387892169 |
0.143 | 0.196 | N | 0.275 | 0.039 | 0.154104182512 | gnomAD-4.0.0 | 6.84319E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65711E-05 |
| Q/K | rs201272728 |
0.424 | None | N | 0.085 | 0.065 | None | gnomAD-2.1.1 | 4.47859E-04 | None | None | None | None | N | None | 7.44971E-04 | 1.75687E-03 | None | 0 | 0 | None | 0 | None | 0 | 2.90593E-04 | 1.12803E-03 |
| Q/K | rs201272728 |
0.424 | None | N | 0.085 | 0.065 | None | gnomAD-3.1.2 | 4.6681E-04 | None | None | None | None | N | None | 7.24428E-04 | 1.57253E-03 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 1.32326E-04 | 0 | 3.34288E-03 |
| Q/K | rs201272728 |
0.424 | None | N | 0.085 | 0.065 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| Q/K | rs201272728 |
0.424 | None | N | 0.085 | 0.065 | None | gnomAD-4.0.0 | 2.82616E-04 | None | None | None | None | N | None | 6.79982E-04 | 1.53364E-03 | None | 0 | 0 | None | 0 | 2.64026E-03 | 1.98344E-04 | 0 | 1.00855E-03 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1687 | likely_benign | 0.1579 | benign | -0.251 | Destabilizing | 0.002 | N | 0.197 | neutral | None | None | None | None | N |
| Q/C | 0.3832 | ambiguous | 0.3517 | ambiguous | -0.038 | Destabilizing | 0.497 | N | 0.289 | neutral | None | None | None | None | N |
| Q/D | 0.4145 | ambiguous | 0.3297 | benign | -0.008 | Destabilizing | 0.018 | N | 0.151 | neutral | None | None | None | None | N |
| Q/E | 0.1028 | likely_benign | 0.0861 | benign | 0.009 | Stabilizing | 0.001 | N | 0.133 | neutral | N | 0.436287067 | None | None | N |
| Q/F | 0.5286 | ambiguous | 0.5084 | ambiguous | -0.317 | Destabilizing | 0.044 | N | 0.462 | neutral | None | None | None | None | N |
| Q/G | 0.2017 | likely_benign | 0.1683 | benign | -0.479 | Destabilizing | 0.008 | N | 0.223 | neutral | None | None | None | None | N |
| Q/H | 0.1566 | likely_benign | 0.1391 | benign | -0.161 | Destabilizing | 0.196 | N | 0.275 | neutral | N | 0.501087907 | None | None | N |
| Q/I | 0.3135 | likely_benign | 0.3119 | benign | 0.275 | Stabilizing | 0.009 | N | 0.315 | neutral | None | None | None | None | N |
| Q/K | 0.0629 | likely_benign | 0.0616 | benign | -0.056 | Destabilizing | None | N | 0.085 | neutral | N | 0.418394739 | None | None | N |
| Q/L | 0.1141 | likely_benign | 0.1063 | benign | 0.275 | Stabilizing | None | N | 0.199 | neutral | N | 0.470496638 | None | None | N |
| Q/M | 0.2785 | likely_benign | 0.2879 | benign | 0.222 | Stabilizing | None | N | 0.094 | neutral | None | None | None | None | N |
| Q/N | 0.2756 | likely_benign | 0.2427 | benign | -0.49 | Destabilizing | 0.018 | N | 0.155 | neutral | None | None | None | None | N |
| Q/P | 0.0833 | likely_benign | 0.0805 | benign | 0.129 | Stabilizing | None | N | 0.098 | neutral | N | 0.445541268 | None | None | N |
| Q/R | 0.0665 | likely_benign | 0.0619 | benign | 0.138 | Stabilizing | None | N | 0.077 | neutral | N | 0.452603313 | None | None | N |
| Q/S | 0.1881 | likely_benign | 0.1814 | benign | -0.488 | Destabilizing | 0.008 | N | 0.121 | neutral | None | None | None | None | N |
| Q/T | 0.1609 | likely_benign | 0.1585 | benign | -0.307 | Destabilizing | 0.008 | N | 0.226 | neutral | None | None | None | None | N |
| Q/V | 0.2065 | likely_benign | 0.2036 | benign | 0.129 | Stabilizing | 0.004 | N | 0.245 | neutral | None | None | None | None | N |
| Q/W | 0.3466 | ambiguous | 0.2673 | benign | -0.314 | Destabilizing | 0.497 | N | 0.291 | neutral | None | None | None | None | N |
| Q/Y | 0.3511 | ambiguous | 0.3114 | benign | -0.053 | Destabilizing | 0.085 | N | 0.395 | 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.