Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23734 | 71425;71426;71427 | chr2:178574932;178574931;178574930 | chr2:179439659;179439658;179439657 |
| N2AB | 22093 | 66502;66503;66504 | chr2:178574932;178574931;178574930 | chr2:179439659;179439658;179439657 |
| N2A | 21166 | 63721;63722;63723 | chr2:178574932;178574931;178574930 | chr2:179439659;179439658;179439657 |
| N2B | 14669 | 44230;44231;44232 | chr2:178574932;178574931;178574930 | chr2:179439659;179439658;179439657 |
| Novex-1 | 14794 | 44605;44606;44607 | chr2:178574932;178574931;178574930 | chr2:179439659;179439658;179439657 |
| Novex-2 | 14861 | 44806;44807;44808 | chr2:178574932;178574931;178574930 | chr2:179439659;179439658;179439657 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs780536082  |
-0.74 | 0.998 | N | 0.736 | 0.224 | 0.480198768302 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/M | rs780536082 |
-0.74 | 0.998 | N | 0.736 | 0.224 | 0.480198768302 | gnomAD-4.0.0 | 6.57652E-06 | None | None | None | None | N | None | 2.41406E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | None | None | 0.333 | N | 0.217 | 0.079 | 0.281780670237 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9068 | likely_pathogenic | 0.892 | pathogenic | -1.985 | Destabilizing | 0.992 | D | 0.687 | prob.neutral | None | None | None | None | N |
| I/C | 0.9297 | likely_pathogenic | 0.9261 | pathogenic | -1.177 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| I/D | 0.9974 | likely_pathogenic | 0.9964 | pathogenic | -2.117 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| I/E | 0.9912 | likely_pathogenic | 0.9897 | pathogenic | -1.803 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| I/F | 0.5299 | ambiguous | 0.5306 | ambiguous | -1.003 | Destabilizing | 0.998 | D | 0.782 | deleterious | N | 0.516364003 | None | None | N |
| I/G | 0.9877 | likely_pathogenic | 0.9843 | pathogenic | -2.601 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| I/H | 0.9922 | likely_pathogenic | 0.9908 | pathogenic | -2.353 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| I/K | 0.9873 | likely_pathogenic | 0.9838 | pathogenic | -1.173 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| I/L | 0.1734 | likely_benign | 0.1617 | benign | -0.168 | Destabilizing | 0.889 | D | 0.531 | neutral | N | 0.418114233 | None | None | N |
| I/M | 0.2096 | likely_benign | 0.2199 | benign | -0.366 | Destabilizing | 0.998 | D | 0.736 | prob.delet. | N | 0.517057437 | None | None | N |
| I/N | 0.9766 | likely_pathogenic | 0.9664 | pathogenic | -1.719 | Destabilizing | 0.999 | D | 0.837 | deleterious | N | 0.490424546 | None | None | N |
| I/P | 0.9509 | likely_pathogenic | 0.9389 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| I/Q | 0.9846 | likely_pathogenic | 0.982 | pathogenic | -1.355 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| I/R | 0.9819 | likely_pathogenic | 0.9771 | pathogenic | -1.427 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| I/S | 0.964 | likely_pathogenic | 0.9549 | pathogenic | -2.404 | Highly Destabilizing | 0.998 | D | 0.81 | deleterious | N | 0.490171056 | None | None | N |
| I/T | 0.9314 | likely_pathogenic | 0.9097 | pathogenic | -1.916 | Destabilizing | 0.989 | D | 0.782 | deleterious | D | 0.52279133 | None | None | N |
| I/V | 0.0759 | likely_benign | 0.0784 | benign | -0.759 | Destabilizing | 0.333 | N | 0.217 | neutral | N | 0.437591002 | None | None | N |
| I/W | 0.9844 | likely_pathogenic | 0.9826 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| I/Y | 0.9598 | likely_pathogenic | 0.954 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.788 | 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.