Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16753 | 50482;50483;50484 | chr2:178612154;178612153;178612152 | chr2:179476881;179476880;179476879 |
| N2AB | 15112 | 45559;45560;45561 | chr2:178612154;178612153;178612152 | chr2:179476881;179476880;179476879 |
| N2A | 14185 | 42778;42779;42780 | chr2:178612154;178612153;178612152 | chr2:179476881;179476880;179476879 |
| N2B | 7688 | 23287;23288;23289 | chr2:178612154;178612153;178612152 | chr2:179476881;179476880;179476879 |
| Novex-1 | 7813 | 23662;23663;23664 | chr2:178612154;178612153;178612152 | chr2:179476881;179476880;179476879 |
| Novex-2 | 7880 | 23863;23864;23865 | chr2:178612154;178612153;178612152 | chr2:179476881;179476880;179476879 |
| 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/A | None | None | 1.0 | D | 0.716 | 0.368 | 0.319114376414 | gnomAD-4.0.0 | 6.86381E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00718E-07 | 0 | 0 |
| G/E | rs774047061  |
-2.501 | 1.0 | D | 0.828 | 0.449 | 0.429780353351 | gnomAD-2.1.1 | 1.23E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.02222E-04 | None | 0 | 0 | 0 |
| G/E | rs774047061 |
-2.501 | 1.0 | D | 0.828 | 0.449 | 0.429780353351 | gnomAD-4.0.0 | 8.92296E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.40964E-04 | 1.66246E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5068 | ambiguous | 0.5705 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | D | 0.541814903 | None | None | N |
| G/C | 0.8629 | likely_pathogenic | 0.8742 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| G/D | 0.9056 | likely_pathogenic | 0.9358 | pathogenic | -2.24 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| G/E | 0.8791 | likely_pathogenic | 0.936 | pathogenic | -2.268 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.526173889 | None | None | N |
| G/F | 0.959 | likely_pathogenic | 0.9704 | pathogenic | -1.199 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| G/H | 0.976 | likely_pathogenic | 0.9835 | pathogenic | -1.4 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/I | 0.9281 | likely_pathogenic | 0.956 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/K | 0.9805 | likely_pathogenic | 0.9885 | pathogenic | -1.373 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| G/L | 0.9017 | likely_pathogenic | 0.9298 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/M | 0.9441 | likely_pathogenic | 0.9628 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| G/N | 0.9093 | likely_pathogenic | 0.9364 | pathogenic | -1.266 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/P | 0.9908 | likely_pathogenic | 0.9891 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/Q | 0.9374 | likely_pathogenic | 0.9629 | pathogenic | -1.487 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/R | 0.9643 | likely_pathogenic | 0.978 | pathogenic | -1.047 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.623319742 | None | None | N |
| G/S | 0.4198 | ambiguous | 0.46 | ambiguous | -1.437 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| G/T | 0.8131 | likely_pathogenic | 0.8429 | pathogenic | -1.402 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| G/V | 0.8767 | likely_pathogenic | 0.9196 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.584982168 | None | None | N |
| G/W | 0.9691 | likely_pathogenic | 0.9775 | pathogenic | -1.572 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| G/Y | 0.9606 | likely_pathogenic | 0.9739 | pathogenic | -1.161 | Destabilizing | 1.0 | D | 0.807 | 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.