Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2220 | 6883;6884;6885 | chr2:178775053;178775052;178775051 | chr2:179639780;179639779;179639778 |
| N2AB | 2220 | 6883;6884;6885 | chr2:178775053;178775052;178775051 | chr2:179639780;179639779;179639778 |
| N2A | 2220 | 6883;6884;6885 | chr2:178775053;178775052;178775051 | chr2:179639780;179639779;179639778 |
| N2B | 2174 | 6745;6746;6747 | chr2:178775053;178775052;178775051 | chr2:179639780;179639779;179639778 |
| Novex-1 | 2174 | 6745;6746;6747 | chr2:178775053;178775052;178775051 | chr2:179639780;179639779;179639778 |
| Novex-2 | 2174 | 6745;6746;6747 | chr2:178775053;178775052;178775051 | chr2:179639780;179639779;179639778 |
| Novex-3 | 2220 | 6883;6884;6885 | chr2:178775053;178775052;178775051 | chr2:179639780;179639779;179639778 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | None | None | 0.032 | D | 0.424 | 0.5 | 0.483082108137 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| Y/H | rs1235706679  |
-1.848 | 0.99 | D | 0.671 | 0.575 | 0.527199525852 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Y/H | rs1235706679 |
-1.848 | 0.99 | D | 0.671 | 0.575 | 0.527199525852 | gnomAD-4.0.0 | 4.10473E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49662E-06 | 1.15931E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9106 | likely_pathogenic | 0.9142 | pathogenic | -2.757 | Highly Destabilizing | 0.754 | D | 0.595 | neutral | None | None | None | None | N |
| Y/C | 0.3939 | ambiguous | 0.39 | ambiguous | -1.65 | Destabilizing | 0.032 | N | 0.424 | neutral | D | 0.627651347 | None | None | N |
| Y/D | 0.9343 | likely_pathogenic | 0.9409 | pathogenic | -2.383 | Highly Destabilizing | 0.99 | D | 0.819 | deleterious | D | 0.727845369 | None | None | N |
| Y/E | 0.9615 | likely_pathogenic | 0.9643 | pathogenic | -2.212 | Highly Destabilizing | 0.993 | D | 0.778 | deleterious | None | None | None | None | N |
| Y/F | 0.1472 | likely_benign | 0.1415 | benign | -0.977 | Destabilizing | 0.904 | D | 0.479 | neutral | N | 0.509788058 | None | None | N |
| Y/G | 0.8951 | likely_pathogenic | 0.9006 | pathogenic | -3.164 | Highly Destabilizing | 0.956 | D | 0.783 | deleterious | None | None | None | None | N |
| Y/H | 0.5105 | ambiguous | 0.5241 | ambiguous | -1.65 | Destabilizing | 0.99 | D | 0.671 | neutral | D | 0.549617585 | None | None | N |
| Y/I | 0.6566 | likely_pathogenic | 0.6596 | pathogenic | -1.45 | Destabilizing | 0.956 | D | 0.722 | prob.delet. | None | None | None | None | N |
| Y/K | 0.9294 | likely_pathogenic | 0.9343 | pathogenic | -1.925 | Destabilizing | 0.978 | D | 0.777 | deleterious | None | None | None | None | N |
| Y/L | 0.6295 | likely_pathogenic | 0.6308 | pathogenic | -1.45 | Destabilizing | 0.754 | D | 0.533 | neutral | None | None | None | None | N |
| Y/M | 0.8257 | likely_pathogenic | 0.8238 | pathogenic | -1.199 | Destabilizing | 0.998 | D | 0.739 | prob.delet. | None | None | None | None | N |
| Y/N | 0.6397 | likely_pathogenic | 0.6597 | pathogenic | -2.547 | Highly Destabilizing | 0.99 | D | 0.797 | deleterious | D | 0.689857196 | None | None | N |
| Y/P | 0.9904 | likely_pathogenic | 0.9911 | pathogenic | -1.893 | Destabilizing | 0.993 | D | 0.827 | deleterious | None | None | None | None | N |
| Y/Q | 0.8925 | likely_pathogenic | 0.8989 | pathogenic | -2.334 | Highly Destabilizing | 0.993 | D | 0.779 | deleterious | None | None | None | None | N |
| Y/R | 0.8502 | likely_pathogenic | 0.8584 | pathogenic | -1.63 | Destabilizing | 0.993 | D | 0.805 | deleterious | None | None | None | None | N |
| Y/S | 0.7795 | likely_pathogenic | 0.7919 | pathogenic | -3.014 | Highly Destabilizing | 0.942 | D | 0.705 | prob.neutral | D | 0.688023416 | None | None | N |
| Y/T | 0.8678 | likely_pathogenic | 0.8748 | pathogenic | -2.727 | Highly Destabilizing | 0.956 | D | 0.743 | deleterious | None | None | None | None | N |
| Y/V | 0.5817 | likely_pathogenic | 0.5789 | pathogenic | -1.893 | Destabilizing | 0.754 | D | 0.608 | neutral | None | None | None | None | N |
| Y/W | 0.6392 | likely_pathogenic | 0.639 | pathogenic | -0.395 | Destabilizing | 0.998 | D | 0.64 | neutral | 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.