Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6400 | 19423;19424;19425 | chr2:178728728;178728727;178728726 | chr2:179593455;179593454;179593453 |
| N2AB | 6083 | 18472;18473;18474 | chr2:178728728;178728727;178728726 | chr2:179593455;179593454;179593453 |
| N2A | 5156 | 15691;15692;15693 | chr2:178728728;178728727;178728726 | chr2:179593455;179593454;179593453 |
| 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/E | rs753234087  |
-0.781 | 0.767 | N | 0.311 | 0.054 | 0.144782658237 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| D/E | rs753234087 |
-0.781 | 0.767 | N | 0.311 | 0.054 | 0.144782658237 | gnomAD-4.0.0 | 1.59866E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43488E-05 | 0 |
| D/V | None | None | 0.999 | N | 0.77 | 0.571 | 0.481616744073 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| D/Y | rs2079819482 |
None | 1.0 | N | 0.791 | 0.404 | 0.564094393547 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs2079819482 |
None | 1.0 | N | 0.791 | 0.404 | 0.564094393547 | gnomAD-4.0.0 | 1.86303E-06 | None | None | None | None | N | None | 2.67144E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.49596E-07 | 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 | 0.3544 | ambiguous | 0.4721 | ambiguous | -0.501 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | N | 0.454908873 | None | None | N |
| D/C | 0.8963 | likely_pathogenic | 0.921 | pathogenic | -0.082 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| D/E | 0.2682 | likely_benign | 0.312 | benign | -0.406 | Destabilizing | 0.767 | D | 0.311 | neutral | N | 0.460515429 | None | None | N |
| D/F | 0.6745 | likely_pathogenic | 0.7696 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| D/G | 0.4568 | ambiguous | 0.6021 | pathogenic | -0.76 | Destabilizing | 0.998 | D | 0.677 | prob.neutral | N | 0.499556606 | None | None | N |
| D/H | 0.5232 | ambiguous | 0.5861 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.756 | deleterious | N | 0.467025647 | None | None | N |
| D/I | 0.5162 | ambiguous | 0.6649 | pathogenic | 0.154 | Stabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| D/K | 0.6233 | likely_pathogenic | 0.766 | pathogenic | 0.06 | Stabilizing | 0.999 | D | 0.693 | prob.neutral | None | None | None | None | N |
| D/L | 0.5398 | ambiguous | 0.68 | pathogenic | 0.154 | Stabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| D/M | 0.6949 | likely_pathogenic | 0.7999 | pathogenic | 0.429 | Stabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| D/N | 0.1587 | likely_benign | 0.1962 | benign | -0.338 | Destabilizing | 0.999 | D | 0.696 | prob.neutral | N | 0.489475686 | None | None | N |
| D/P | 0.9769 | likely_pathogenic | 0.9888 | pathogenic | -0.041 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| D/Q | 0.5068 | ambiguous | 0.6166 | pathogenic | -0.267 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| D/R | 0.6956 | likely_pathogenic | 0.8158 | pathogenic | 0.22 | Stabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | N |
| D/S | 0.2668 | likely_benign | 0.3451 | ambiguous | -0.481 | Destabilizing | 0.997 | D | 0.637 | neutral | None | None | None | None | N |
| D/T | 0.4747 | ambiguous | 0.5948 | pathogenic | -0.274 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| D/V | 0.3449 | ambiguous | 0.4865 | ambiguous | -0.041 | Destabilizing | 0.999 | D | 0.77 | deleterious | N | 0.489511222 | None | None | N |
| D/W | 0.9434 | likely_pathogenic | 0.9633 | pathogenic | -0.091 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| D/Y | 0.2697 | likely_benign | 0.3389 | benign | -0.038 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.480041021 | 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.