Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9082 | 27469;27470;27471 | chr2:178712781;178712780;178712779 | chr2:179577508;179577507;179577506 |
| N2AB | 8765 | 26518;26519;26520 | chr2:178712781;178712780;178712779 | chr2:179577508;179577507;179577506 |
| N2A | 7838 | 23737;23738;23739 | chr2:178712781;178712780;178712779 | chr2:179577508;179577507;179577506 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | None | None | 0.042 | N | 0.353 | 0.132 | 0.154104182512 | gnomAD-4.0.0 | 2.05266E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.6984E-06 | 0 | 0 |
| D/H | rs749836809  |
-0.444 | 0.002 | N | 0.222 | 0.051 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 1.93874E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/H | rs749836809 |
-0.444 | 0.002 | N | 0.222 | 0.051 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/H | rs749836809 |
-0.444 | 0.002 | N | 0.222 | 0.051 | None | gnomAD-4.0.0 | 4.9576E-06 | None | None | None | None | N | None | 1.06778E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1327 | likely_benign | 0.1462 | benign | -0.433 | Destabilizing | 0.042 | N | 0.393 | neutral | N | 0.510854688 | None | None | N |
| D/C | 0.4768 | ambiguous | 0.532 | ambiguous | 0.19 | Stabilizing | 0.958 | D | 0.397 | neutral | None | None | None | None | N |
| D/E | 0.1188 | likely_benign | 0.1381 | benign | -0.451 | Destabilizing | 0.003 | N | 0.135 | neutral | N | 0.447707287 | None | None | N |
| D/F | 0.4245 | ambiguous | 0.4908 | ambiguous | -0.643 | Destabilizing | 0.667 | D | 0.409 | neutral | None | None | None | None | N |
| D/G | 0.1163 | likely_benign | 0.124 | benign | -0.64 | Destabilizing | 0.042 | N | 0.353 | neutral | N | 0.488556619 | None | None | N |
| D/H | 0.1759 | likely_benign | 0.197 | benign | -0.823 | Destabilizing | 0.002 | N | 0.222 | neutral | N | 0.521495756 | None | None | N |
| D/I | 0.2773 | likely_benign | 0.3278 | benign | 0.069 | Stabilizing | 0.667 | D | 0.427 | neutral | None | None | None | None | N |
| D/K | 0.1912 | likely_benign | 0.2417 | benign | 0.232 | Stabilizing | 0.004 | N | 0.203 | neutral | None | None | None | None | N |
| D/L | 0.2577 | likely_benign | 0.3031 | benign | 0.069 | Stabilizing | 0.22 | N | 0.405 | neutral | None | None | None | None | N |
| D/M | 0.4386 | ambiguous | 0.4853 | ambiguous | 0.521 | Stabilizing | 0.667 | D | 0.395 | neutral | None | None | None | None | N |
| D/N | 0.0849 | likely_benign | 0.0878 | benign | None | Stabilizing | None | N | 0.121 | neutral | N | 0.475838037 | None | None | N |
| D/P | 0.5994 | likely_pathogenic | 0.6681 | pathogenic | -0.076 | Destabilizing | 0.364 | N | 0.44 | neutral | None | None | None | None | N |
| D/Q | 0.1898 | likely_benign | 0.2186 | benign | 0.012 | Stabilizing | 0.004 | N | 0.245 | neutral | None | None | None | None | N |
| D/R | 0.2229 | likely_benign | 0.2841 | benign | 0.179 | Stabilizing | 0.124 | N | 0.387 | neutral | None | None | None | None | N |
| D/S | 0.0975 | likely_benign | 0.0978 | benign | -0.13 | Destabilizing | 0.004 | N | 0.189 | neutral | None | None | None | None | N |
| D/T | 0.1641 | likely_benign | 0.1742 | benign | 0.033 | Stabilizing | 0.124 | N | 0.349 | neutral | None | None | None | None | N |
| D/V | 0.1815 | likely_benign | 0.2127 | benign | -0.076 | Destabilizing | 0.175 | N | 0.408 | neutral | N | 0.498600254 | None | None | N |
| D/W | 0.753 | likely_pathogenic | 0.8262 | pathogenic | -0.576 | Destabilizing | 0.958 | D | 0.446 | neutral | None | None | None | None | N |
| D/Y | 0.1838 | likely_benign | 0.2281 | benign | -0.421 | Destabilizing | 0.427 | N | 0.411 | neutral | N | 0.503596455 | 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.