Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18088 | 54487;54488;54489 | chr2:178604827;178604826;178604825 | chr2:179469554;179469553;179469552 |
| N2AB | 16447 | 49564;49565;49566 | chr2:178604827;178604826;178604825 | chr2:179469554;179469553;179469552 |
| N2A | 15520 | 46783;46784;46785 | chr2:178604827;178604826;178604825 | chr2:179469554;179469553;179469552 |
| N2B | 9023 | 27292;27293;27294 | chr2:178604827;178604826;178604825 | chr2:179469554;179469553;179469552 |
| Novex-1 | 9148 | 27667;27668;27669 | chr2:178604827;178604826;178604825 | chr2:179469554;179469553;179469552 |
| Novex-2 | 9215 | 27868;27869;27870 | chr2:178604827;178604826;178604825 | chr2:179469554;179469553;179469552 |
| 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 | 0.864 | N | 0.798 | 0.284 | 0.540835050783 | gnomAD-4.0.0 | 1.59431E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86377E-06 | 0 | 0 |
| A/T | rs781223649  |
-1.44 | 0.013 | D | 0.315 | 0.128 | 0.168933306366 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs781223649 |
-1.44 | 0.013 | D | 0.315 | 0.128 | 0.168933306366 | gnomAD-4.0.0 | 1.59407E-06 | None | None | None | None | N | None | 0 | 2.28927E-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 | 0.39 | ambiguous | 0.4527 | ambiguous | -1.079 | Destabilizing | 0.985 | D | 0.639 | neutral | None | None | None | None | N |
| A/D | 0.2251 | likely_benign | 0.2426 | benign | -1.742 | Destabilizing | 0.864 | D | 0.798 | deleterious | N | 0.508824742 | None | None | N |
| A/E | 0.2115 | likely_benign | 0.2287 | benign | -1.713 | Destabilizing | 0.894 | D | 0.692 | prob.neutral | None | None | None | None | N |
| A/F | 0.2903 | likely_benign | 0.3479 | ambiguous | -1.088 | Destabilizing | 0.894 | D | 0.832 | deleterious | None | None | None | None | N |
| A/G | 0.147 | likely_benign | 0.1565 | benign | -1.446 | Destabilizing | 0.645 | D | 0.465 | neutral | N | 0.494740724 | None | None | N |
| A/H | 0.407 | ambiguous | 0.4531 | ambiguous | -1.605 | Destabilizing | 0.995 | D | 0.801 | deleterious | None | None | None | None | N |
| A/I | 0.1602 | likely_benign | 0.2109 | benign | -0.378 | Destabilizing | 0.293 | N | 0.621 | neutral | None | None | None | None | N |
| A/K | 0.4355 | ambiguous | 0.4785 | ambiguous | -1.556 | Destabilizing | 0.894 | D | 0.705 | prob.neutral | None | None | None | None | N |
| A/L | 0.1267 | likely_benign | 0.151 | benign | -0.378 | Destabilizing | 0.547 | D | 0.515 | neutral | None | None | None | None | N |
| A/M | 0.1556 | likely_benign | 0.1957 | benign | -0.329 | Destabilizing | 0.97 | D | 0.757 | deleterious | None | None | None | None | N |
| A/N | 0.1788 | likely_benign | 0.2195 | benign | -1.373 | Destabilizing | 0.894 | D | 0.806 | deleterious | None | None | None | None | N |
| A/P | 0.1057 | likely_benign | 0.1171 | benign | -0.585 | Destabilizing | 0.928 | D | 0.754 | deleterious | N | 0.405710657 | None | None | N |
| A/Q | 0.2755 | likely_benign | 0.3056 | benign | -1.458 | Destabilizing | 0.945 | D | 0.777 | deleterious | None | None | None | None | N |
| A/R | 0.4582 | ambiguous | 0.4971 | ambiguous | -1.197 | Destabilizing | 0.894 | D | 0.766 | deleterious | None | None | None | None | N |
| A/S | 0.0858 | likely_benign | 0.0881 | benign | -1.712 | Destabilizing | 0.477 | N | 0.434 | neutral | N | 0.47994463 | None | None | N |
| A/T | 0.0844 | likely_benign | 0.0945 | benign | -1.576 | Destabilizing | 0.013 | N | 0.315 | neutral | D | 0.522676687 | None | None | N |
| A/V | 0.0987 | likely_benign | 0.12 | benign | -0.585 | Destabilizing | 0.013 | N | 0.323 | neutral | N | 0.485678524 | None | None | N |
| A/W | 0.707 | likely_pathogenic | 0.7438 | pathogenic | -1.516 | Destabilizing | 0.995 | D | 0.777 | deleterious | None | None | None | None | N |
| A/Y | 0.3876 | ambiguous | 0.4328 | ambiguous | -1.094 | Destabilizing | 0.945 | D | 0.827 | 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.