Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14599 | 44020;44021;44022 | chr2:178631253;178631252;178631251 | chr2:179495980;179495979;179495978 |
| N2AB | 12958 | 39097;39098;39099 | chr2:178631253;178631252;178631251 | chr2:179495980;179495979;179495978 |
| N2A | 12031 | 36316;36317;36318 | chr2:178631253;178631252;178631251 | chr2:179495980;179495979;179495978 |
| N2B | 5534 | 16825;16826;16827 | chr2:178631253;178631252;178631251 | chr2:179495980;179495979;179495978 |
| Novex-1 | 5659 | 17200;17201;17202 | chr2:178631253;178631252;178631251 | chr2:179495980;179495979;179495978 |
| Novex-2 | 5726 | 17401;17402;17403 | chr2:178631253;178631252;178631251 | chr2:179495980;179495979;179495978 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | None | None | 0.999 | D | 0.599 | 0.515 | 0.352476196916 | gnomAD-4.0.0 | 6.84963E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.6587E-05 |
| E/G | rs918346918  |
None | 1.0 | D | 0.683 | 0.54 | 0.528160237705 | gnomAD-4.0.0 | 6.84963E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.6587E-05 |
| E/K | None | None | 0.999 | D | 0.575 | 0.313 | 0.375861065471 | gnomAD-4.0.0 | 4.79484E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29907E-06 | 0 | 0 |
| E/Q | rs879113246 |
None | 1.0 | D | 0.622 | 0.269 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | rs879113246 |
None | 1.0 | D | 0.622 | 0.269 | None | gnomAD-4.0.0 | 2.48139E-06 | None | None | None | None | N | None | 4.00609E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60313E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.4357 | ambiguous | 0.3465 | ambiguous | -0.572 | Destabilizing | 0.999 | D | 0.599 | neutral | D | 0.539391309 | None | None | N |
| E/C | 0.9844 | likely_pathogenic | 0.9754 | pathogenic | -0.292 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| E/D | 0.7692 | likely_pathogenic | 0.6411 | pathogenic | -0.588 | Destabilizing | 0.999 | D | 0.425 | neutral | D | 0.537894776 | None | None | N |
| E/F | 0.9749 | likely_pathogenic | 0.9607 | pathogenic | -0.29 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| E/G | 0.5251 | ambiguous | 0.393 | ambiguous | -0.827 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | D | 0.718551824 | None | None | N |
| E/H | 0.9519 | likely_pathogenic | 0.9195 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
| E/I | 0.783 | likely_pathogenic | 0.7447 | pathogenic | 0.087 | Stabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| E/K | 0.558 | ambiguous | 0.4552 | ambiguous | -0.135 | Destabilizing | 0.999 | D | 0.575 | neutral | D | 0.53482684 | None | None | N |
| E/L | 0.8231 | likely_pathogenic | 0.7532 | pathogenic | 0.087 | Stabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| E/M | 0.8464 | likely_pathogenic | 0.8077 | pathogenic | 0.224 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| E/N | 0.8671 | likely_pathogenic | 0.7965 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| E/P | 0.9188 | likely_pathogenic | 0.8601 | pathogenic | -0.112 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| E/Q | 0.4076 | ambiguous | 0.3503 | ambiguous | -0.398 | Destabilizing | 1.0 | D | 0.622 | neutral | D | 0.57165862 | None | None | N |
| E/R | 0.7312 | likely_pathogenic | 0.6374 | pathogenic | 0.148 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| E/S | 0.695 | likely_pathogenic | 0.5854 | pathogenic | -0.668 | Destabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | N |
| E/T | 0.7701 | likely_pathogenic | 0.6689 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| E/V | 0.616 | likely_pathogenic | 0.5394 | ambiguous | -0.112 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.487570249 | None | None | N |
| E/W | 0.9925 | likely_pathogenic | 0.9878 | pathogenic | -0.099 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| E/Y | 0.9682 | likely_pathogenic | 0.9491 | pathogenic | -0.057 | Destabilizing | 1.0 | D | 0.725 | 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.