Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23788 | 71587;71588;71589 | chr2:178574770;178574769;178574768 | chr2:179439497;179439496;179439495 |
| N2AB | 22147 | 66664;66665;66666 | chr2:178574770;178574769;178574768 | chr2:179439497;179439496;179439495 |
| N2A | 21220 | 63883;63884;63885 | chr2:178574770;178574769;178574768 | chr2:179439497;179439496;179439495 |
| N2B | 14723 | 44392;44393;44394 | chr2:178574770;178574769;178574768 | chr2:179439497;179439496;179439495 |
| Novex-1 | 14848 | 44767;44768;44769 | chr2:178574770;178574769;178574768 | chr2:179439497;179439496;179439495 |
| Novex-2 | 14915 | 44968;44969;44970 | chr2:178574770;178574769;178574768 | chr2:179439497;179439496;179439495 |
| 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/D | None | None | 1.0 | N | 0.854 | 0.513 | 0.663271509172 | gnomAD-4.0.0 | 1.59504E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43707E-05 | 0 |
| A/T | rs1709470635  |
None | 1.0 | N | 0.766 | 0.393 | 0.407632638399 | gnomAD-4.0.0 | 4.79479E-06 | None | None | None | None | N | None | 5.97979E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 8.29628E-05 |
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 | 0.6597 | likely_pathogenic | 0.6606 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| A/D | 0.9876 | likely_pathogenic | 0.9866 | pathogenic | -1.988 | Destabilizing | 1.0 | D | 0.854 | deleterious | N | 0.479480483 | None | None | N |
| A/E | 0.9723 | likely_pathogenic | 0.9728 | pathogenic | -1.705 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| A/F | 0.8799 | likely_pathogenic | 0.8879 | pathogenic | -0.336 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| A/G | 0.3536 | ambiguous | 0.3592 | ambiguous | -0.98 | Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.485509794 | None | None | N |
| A/H | 0.9802 | likely_pathogenic | 0.982 | pathogenic | -1.698 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| A/I | 0.5358 | ambiguous | 0.5254 | ambiguous | 0.984 | Stabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/K | 0.9877 | likely_pathogenic | 0.9889 | pathogenic | -0.513 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/L | 0.59 | likely_pathogenic | 0.6197 | pathogenic | 0.984 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| A/M | 0.6625 | likely_pathogenic | 0.6747 | pathogenic | 0.657 | Stabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/N | 0.9516 | likely_pathogenic | 0.946 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/P | 0.9486 | likely_pathogenic | 0.9379 | pathogenic | 0.544 | Stabilizing | 1.0 | D | 0.836 | deleterious | N | 0.520673745 | None | None | N |
| A/Q | 0.9535 | likely_pathogenic | 0.9566 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/R | 0.979 | likely_pathogenic | 0.9816 | pathogenic | -1.032 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| A/S | 0.3698 | ambiguous | 0.3406 | ambiguous | -1.416 | Destabilizing | 1.0 | D | 0.595 | neutral | N | 0.513958416 | None | None | N |
| A/T | 0.3929 | ambiguous | 0.3481 | ambiguous | -0.98 | Destabilizing | 1.0 | D | 0.766 | deleterious | N | 0.501471909 | None | None | N |
| A/V | 0.249 | likely_benign | 0.2327 | benign | 0.544 | Stabilizing | 1.0 | D | 0.641 | neutral | N | 0.357241919 | None | None | N |
| A/W | 0.9902 | likely_pathogenic | 0.9916 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/Y | 0.954 | likely_pathogenic | 0.9576 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.903 | 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.