Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27519 | 82780;82781;82782 | chr2:178563577;178563576;178563575 | chr2:179428304;179428303;179428302 |
| N2AB | 25878 | 77857;77858;77859 | chr2:178563577;178563576;178563575 | chr2:179428304;179428303;179428302 |
| N2A | 24951 | 75076;75077;75078 | chr2:178563577;178563576;178563575 | chr2:179428304;179428303;179428302 |
| N2B | 18454 | 55585;55586;55587 | chr2:178563577;178563576;178563575 | chr2:179428304;179428303;179428302 |
| Novex-1 | 18579 | 55960;55961;55962 | chr2:178563577;178563576;178563575 | chr2:179428304;179428303;179428302 |
| Novex-2 | 18646 | 56161;56162;56163 | chr2:178563577;178563576;178563575 | chr2:179428304;179428303;179428302 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs756544826  |
-0.673 | 0.97 | N | 0.799 | 0.527 | 0.548022476061 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| C/R | rs756544826 |
-0.673 | 0.97 | N | 0.799 | 0.527 | 0.548022476061 | gnomAD-4.0.0 | 1.59126E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 0 |
| C/S | rs756544826 |
-1.586 | 0.904 | N | 0.619 | 0.426 | 0.542987213932 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 0 | 0 |
| C/S | rs756544826 |
-1.586 | 0.904 | N | 0.619 | 0.426 | 0.542987213932 | gnomAD-4.0.0 | 3.18251E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.76464E-05 | 0 | 0 | 0 | 0 |
| C/Y | rs1186845754 |
-1.24 | 0.97 | N | 0.775 | 0.468 | 0.592080101431 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14705E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/Y | rs1186845754 |
-1.24 | 0.97 | N | 0.775 | 0.468 | 0.592080101431 | 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 |
| C/Y | rs1186845754 |
-1.24 | 0.97 | N | 0.775 | 0.468 | 0.592080101431 | gnomAD-4.0.0 | 1.31473E-05 | None | None | None | None | N | None | 4.82695E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.6381 | likely_pathogenic | 0.6113 | pathogenic | -1.709 | Destabilizing | 0.559 | D | 0.467 | neutral | None | None | None | None | N |
| C/D | 0.9937 | likely_pathogenic | 0.9929 | pathogenic | -0.276 | Destabilizing | 0.993 | D | 0.793 | deleterious | None | None | None | None | N |
| C/E | 0.9948 | likely_pathogenic | 0.9942 | pathogenic | -0.179 | Destabilizing | 0.978 | D | 0.799 | deleterious | None | None | None | None | N |
| C/F | 0.8109 | likely_pathogenic | 0.7884 | pathogenic | -1.042 | Destabilizing | 0.942 | D | 0.764 | deleterious | N | 0.518438729 | None | None | N |
| C/G | 0.5857 | likely_pathogenic | 0.5774 | pathogenic | -2.013 | Highly Destabilizing | 0.97 | D | 0.729 | prob.delet. | N | 0.49115488 | None | None | N |
| C/H | 0.9802 | likely_pathogenic | 0.9781 | pathogenic | -1.885 | Destabilizing | 0.998 | D | 0.779 | deleterious | None | None | None | None | N |
| C/I | 0.6271 | likely_pathogenic | 0.5667 | pathogenic | -0.929 | Destabilizing | 0.754 | D | 0.525 | neutral | None | None | None | None | N |
| C/K | 0.9969 | likely_pathogenic | 0.9964 | pathogenic | -1.023 | Destabilizing | 0.978 | D | 0.777 | deleterious | None | None | None | None | N |
| C/L | 0.7739 | likely_pathogenic | 0.7377 | pathogenic | -0.929 | Destabilizing | 0.559 | D | 0.544 | neutral | None | None | None | None | N |
| C/M | 0.889 | likely_pathogenic | 0.8717 | pathogenic | 0.022 | Stabilizing | 0.978 | D | 0.723 | prob.delet. | None | None | None | None | N |
| C/N | 0.9528 | likely_pathogenic | 0.9482 | pathogenic | -0.998 | Destabilizing | 0.993 | D | 0.803 | deleterious | None | None | None | None | N |
| C/P | 0.9862 | likely_pathogenic | 0.9838 | pathogenic | -1.163 | Destabilizing | 0.993 | D | 0.806 | deleterious | None | None | None | None | N |
| C/Q | 0.9847 | likely_pathogenic | 0.9821 | pathogenic | -0.897 | Destabilizing | 0.993 | D | 0.79 | deleterious | None | None | None | None | N |
| C/R | 0.9743 | likely_pathogenic | 0.9743 | pathogenic | -0.815 | Destabilizing | 0.97 | D | 0.799 | deleterious | N | 0.507484708 | None | None | N |
| C/S | 0.7113 | likely_pathogenic | 0.6956 | pathogenic | -1.567 | Destabilizing | 0.904 | D | 0.619 | neutral | N | 0.483557556 | None | None | N |
| C/T | 0.7777 | likely_pathogenic | 0.7657 | pathogenic | -1.286 | Destabilizing | 0.86 | D | 0.588 | neutral | None | None | None | None | N |
| C/V | 0.3903 | ambiguous | 0.357 | ambiguous | -1.163 | Destabilizing | 0.019 | N | 0.348 | neutral | None | None | None | None | N |
| C/W | 0.9599 | likely_pathogenic | 0.9581 | pathogenic | -1.009 | Destabilizing | 0.997 | D | 0.75 | deleterious | N | 0.521793982 | None | None | N |
| C/Y | 0.8815 | likely_pathogenic | 0.8723 | pathogenic | -1.02 | Destabilizing | 0.97 | D | 0.775 | deleterious | N | 0.488179139 | 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.