Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25575 | 76948;76949;76950 | chr2:178569409;178569408;178569407 | chr2:179434136;179434135;179434134 |
| N2AB | 23934 | 72025;72026;72027 | chr2:178569409;178569408;178569407 | chr2:179434136;179434135;179434134 |
| N2A | 23007 | 69244;69245;69246 | chr2:178569409;178569408;178569407 | chr2:179434136;179434135;179434134 |
| N2B | 16510 | 49753;49754;49755 | chr2:178569409;178569408;178569407 | chr2:179434136;179434135;179434134 |
| Novex-1 | 16635 | 50128;50129;50130 | chr2:178569409;178569408;178569407 | chr2:179434136;179434135;179434134 |
| Novex-2 | 16702 | 50329;50330;50331 | chr2:178569409;178569408;178569407 | chr2:179434136;179434135;179434134 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs749711979  |
-0.576 | 1.0 | D | 0.791 | 0.775 | 0.725831142202 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 8.27E-05 | 2.84E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs749711979 |
-0.576 | 1.0 | D | 0.791 | 0.775 | 0.725831142202 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs749711979 |
-0.576 | 1.0 | D | 0.791 | 0.775 | 0.725831142202 | gnomAD-4.0.0 | 4.33919E-06 | None | None | None | None | N | None | 8.01218E-05 | 1.66839E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9824 | likely_pathogenic | 0.9848 | pathogenic | 0.265 | Stabilizing | 1.0 | D | 0.856 | deleterious | D | 0.633425081 | None | None | N |
| D/C | 0.9882 | likely_pathogenic | 0.9895 | pathogenic | 0.276 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| D/E | 0.9314 | likely_pathogenic | 0.9412 | pathogenic | -0.609 | Destabilizing | 1.0 | D | 0.613 | neutral | D | 0.622695504 | None | None | N |
| D/F | 0.9972 | likely_pathogenic | 0.9972 | pathogenic | 0.93 | Stabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| D/G | 0.9854 | likely_pathogenic | 0.9873 | pathogenic | -0.201 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.649646246 | None | None | N |
| D/H | 0.9505 | likely_pathogenic | 0.9606 | pathogenic | 0.558 | Stabilizing | 1.0 | D | 0.845 | deleterious | D | 0.585538442 | None | None | N |
| D/I | 0.9955 | likely_pathogenic | 0.9963 | pathogenic | 1.518 | Stabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| D/K | 0.9953 | likely_pathogenic | 0.9959 | pathogenic | 0.206 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| D/L | 0.9946 | likely_pathogenic | 0.9947 | pathogenic | 1.518 | Stabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| D/M | 0.9981 | likely_pathogenic | 0.9982 | pathogenic | 1.915 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/N | 0.8812 | likely_pathogenic | 0.8938 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.599771924 | None | None | N |
| D/P | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | 1.131 | Stabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| D/Q | 0.9884 | likely_pathogenic | 0.9899 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| D/R | 0.9952 | likely_pathogenic | 0.996 | pathogenic | 0.201 | Stabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| D/S | 0.9399 | likely_pathogenic | 0.9495 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| D/T | 0.9906 | likely_pathogenic | 0.9923 | pathogenic | -0.478 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| D/V | 0.9875 | likely_pathogenic | 0.9887 | pathogenic | 1.131 | Stabilizing | 1.0 | D | 0.861 | deleterious | D | 0.650049854 | None | None | N |
| D/W | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | 0.999 | Stabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| D/Y | 0.9709 | likely_pathogenic | 0.973 | pathogenic | 1.21 | Stabilizing | 1.0 | D | 0.874 | deleterious | D | 0.624309938 | 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.