Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7926 | 24001;24002;24003 | chr2:178719716;178719715;178719714 | chr2:179584443;179584442;179584441 |
| N2AB | 7609 | 23050;23051;23052 | chr2:178719716;178719715;178719714 | chr2:179584443;179584442;179584441 |
| N2A | 6682 | 20269;20270;20271 | chr2:178719716;178719715;178719714 | chr2:179584443;179584442;179584441 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | None | None | 0.987 | N | 0.665 | 0.398 | 0.450343601259 | gnomAD-4.0.0 | 3.18284E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85879E-06 | 1.43279E-05 | 0 |
| G/R | rs1462977201  |
-0.36 | 0.997 | N | 0.704 | 0.52 | 0.682544474797 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs1462977201 |
-0.36 | 0.997 | N | 0.704 | 0.52 | 0.682544474797 | gnomAD-4.0.0 | 6.84239E-07 | None | None | None | None | N | None | 2.98846E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | None | None | 0.987 | D | 0.699 | 0.46 | 0.761581445113 | gnomAD-4.0.0 | 1.59142E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.398 | ambiguous | 0.3889 | ambiguous | -0.252 | Destabilizing | 0.235 | N | 0.333 | neutral | N | 0.503485463 | None | None | N |
| G/C | 0.4771 | ambiguous | 0.507 | ambiguous | -0.871 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/D | 0.2404 | likely_benign | 0.2563 | benign | -0.28 | Destabilizing | 0.289 | N | 0.39 | neutral | None | None | None | None | N |
| G/E | 0.3028 | likely_benign | 0.3063 | benign | -0.429 | Destabilizing | 0.987 | D | 0.665 | neutral | N | 0.483353292 | None | None | N |
| G/F | 0.849 | likely_pathogenic | 0.8563 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| G/H | 0.4882 | ambiguous | 0.5092 | ambiguous | -0.403 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| G/I | 0.7909 | likely_pathogenic | 0.77 | pathogenic | -0.375 | Destabilizing | 0.995 | D | 0.73 | prob.delet. | None | None | None | None | N |
| G/K | 0.4294 | ambiguous | 0.4606 | ambiguous | -0.7 | Destabilizing | 0.995 | D | 0.665 | neutral | None | None | None | None | N |
| G/L | 0.796 | likely_pathogenic | 0.8011 | pathogenic | -0.375 | Destabilizing | 0.995 | D | 0.692 | prob.neutral | None | None | None | None | N |
| G/M | 0.7824 | likely_pathogenic | 0.7845 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| G/N | 0.2935 | likely_benign | 0.3108 | benign | -0.379 | Destabilizing | 0.995 | D | 0.661 | neutral | None | None | None | None | N |
| G/P | 0.9901 | likely_pathogenic | 0.9874 | pathogenic | -0.302 | Destabilizing | 0.998 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/Q | 0.3394 | likely_benign | 0.3534 | ambiguous | -0.616 | Destabilizing | 0.998 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/R | 0.3099 | likely_benign | 0.3211 | benign | -0.3 | Destabilizing | 0.997 | D | 0.704 | prob.neutral | N | 0.509321587 | None | None | N |
| G/S | 0.1478 | likely_benign | 0.1435 | benign | -0.569 | Destabilizing | 0.966 | D | 0.539 | neutral | None | None | None | None | N |
| G/T | 0.4846 | ambiguous | 0.4739 | ambiguous | -0.639 | Destabilizing | 0.995 | D | 0.673 | neutral | None | None | None | None | N |
| G/V | 0.7071 | likely_pathogenic | 0.684 | pathogenic | -0.302 | Destabilizing | 0.987 | D | 0.699 | prob.neutral | D | 0.527212032 | None | None | N |
| G/W | 0.7112 | likely_pathogenic | 0.7059 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/Y | 0.7175 | likely_pathogenic | 0.7187 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | 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.