Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14514 | 43765;43766;43767 | chr2:178632354;178632353;178632352 | chr2:179497081;179497080;179497079 |
| N2AB | 12873 | 38842;38843;38844 | chr2:178632354;178632353;178632352 | chr2:179497081;179497080;179497079 |
| N2A | 11946 | 36061;36062;36063 | chr2:178632354;178632353;178632352 | chr2:179497081;179497080;179497079 |
| N2B | 5449 | 16570;16571;16572 | chr2:178632354;178632353;178632352 | chr2:179497081;179497080;179497079 |
| Novex-1 | 5574 | 16945;16946;16947 | chr2:178632354;178632353;178632352 | chr2:179497081;179497080;179497079 |
| Novex-2 | 5641 | 17146;17147;17148 | chr2:178632354;178632353;178632352 | chr2:179497081;179497080;179497079 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | None | None | 1.0 | D | 0.861 | 0.598 | 0.797850590631 | gnomAD-4.0.0 | 6.883E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.03023E-07 | 0 | 0 |
| A/T | rs1277313297  |
None | 1.0 | D | 0.705 | 0.595 | 0.751342362238 | gnomAD-4.0.0 | 6.88301E-07 | None | None | None | None | N | None | 0 | 2.29064E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.765 | likely_pathogenic | 0.7843 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| A/D | 0.9682 | likely_pathogenic | 0.9763 | pathogenic | -0.762 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.719248518 | None | None | N |
| A/E | 0.9385 | likely_pathogenic | 0.9461 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/F | 0.8896 | likely_pathogenic | 0.9086 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| A/G | 0.4646 | ambiguous | 0.4822 | ambiguous | -0.97 | Destabilizing | 1.0 | D | 0.587 | neutral | D | 0.682088231 | None | None | N |
| A/H | 0.9657 | likely_pathogenic | 0.9737 | pathogenic | -1.28 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/I | 0.6105 | likely_pathogenic | 0.6083 | pathogenic | 0.618 | Stabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/K | 0.9649 | likely_pathogenic | 0.9717 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| A/L | 0.6493 | likely_pathogenic | 0.6773 | pathogenic | 0.618 | Stabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| A/M | 0.6825 | likely_pathogenic | 0.7183 | pathogenic | 0.346 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/N | 0.949 | likely_pathogenic | 0.9592 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| A/P | 0.9715 | likely_pathogenic | 0.9775 | pathogenic | 0.284 | Stabilizing | 1.0 | D | 0.861 | deleterious | D | 0.719172994 | None | None | N |
| A/Q | 0.9341 | likely_pathogenic | 0.9442 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| A/R | 0.9233 | likely_pathogenic | 0.9391 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/S | 0.3162 | likely_benign | 0.3314 | benign | -1.216 | Destabilizing | 1.0 | D | 0.601 | neutral | D | 0.719436074 | None | None | N |
| A/T | 0.2578 | likely_benign | 0.2703 | benign | -0.909 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | D | 0.719877037 | None | None | N |
| A/V | 0.2742 | likely_benign | 0.2722 | benign | 0.284 | Stabilizing | 1.0 | D | 0.621 | neutral | D | 0.598710496 | None | None | N |
| A/W | 0.9911 | likely_pathogenic | 0.9937 | pathogenic | -0.958 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/Y | 0.9594 | likely_pathogenic | 0.9693 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.884 | deleterious | 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.